ClinVar 임상 비교
AlphaMissense AI 예측 vs ClinVar 실제 임상 분류 — 일치/불일치 분석
ClinVar 변이 (서브셋)
319,822
우리 보유 유전자만
커버 유전자
308
병원성/가능 변이
56,770
AM과 교차 가능
154,518
단백질 변이 추출
COMP: AM vs ClinVar 일치도
500 변이✓ 둘 다 병원성
142
✓ 둘 다 양성
4
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
7
— AM 미적재
345
AM ↔ ClinVar 비교 가능 변이 155건 중 146건 일치 / 9건 불일치 — 일치도 94.2%
변이별 비교
Max 500| 변이 | ClinVar 분류 | AM 점수 | AM 분류 | 일치 | |
|---|---|---|---|---|---|
| C255R | Conflicting classifications of pathogeni | 0.997 | pathogenic | 해석 → | |
| C292F | Pathogenic | 0.997 | pathogenic | ✓ | 해석 → |
| C292R | Pathogenic/Likely pathogenic | 0.997 | pathogenic | ✓ | 해석 → |
| C292Y | Likely pathogenic | 0.998 | pathogenic | ✓ | 해석 → |
| C328F | Likely pathogenic | 0.994 | pathogenic | ✓ | 해석 → |
| C328R | Pathogenic | 0.996 | pathogenic | ✓ | 해석 → |
| C328W | Likely pathogenic | 0.997 | pathogenic | ✓ | 해석 → |
| C348R | Pathogenic | 0.989 | pathogenic | ✓ | 해석 → |
| C348Y | Likely pathogenic | 0.994 | pathogenic | ✓ | 해석 → |
| C351R | Likely pathogenic | 0.992 | pathogenic | ✓ | 해석 → |
| C351Y | Pathogenic | 0.989 | pathogenic | ✓ | 해석 → |
| C371R | Likely pathogenic | 0.983 | pathogenic | ✓ | 해석 → |
| C371S | Likely pathogenic | 0.991 | pathogenic | ✓ | 해석 → |
| C371W | Likely pathogenic | 0.976 | pathogenic | ✓ | 해석 → |
| C371Y | Pathogenic/Likely pathogenic | 0.984 | pathogenic | ✓ | 해석 → |
| C387R | Pathogenic | 0.995 | pathogenic | ✓ | 해석 → |
| C407Y | Pathogenic | 0.988 | pathogenic | ✓ | 해석 → |
| C410G | Likely pathogenic | 0.982 | pathogenic | ✓ | 해석 → |
| C410R | Likely pathogenic | 0.994 | pathogenic | ✓ | 해석 → |
| C410Y | Conflicting classifications of pathogeni | 0.989 | pathogenic | 해석 → | |
| C448G | Likely pathogenic | 0.991 | pathogenic | ✓ | 해석 → |
| C448R | Pathogenic | 0.996 | pathogenic | ✓ | 해석 → |
| C468F | Pathogenic | 0.982 | pathogenic | ✓ | 해석 → |
| C468R | Pathogenic | 0.985 | pathogenic | ✓ | 해석 → |
| C468S | Likely pathogenic | 0.994 | pathogenic | ✓ | 해석 → |
| C468Y | Uncertain significance | 0.988 | pathogenic | 해석 → | |
| C484G | Likely pathogenic | 0.988 | pathogenic | ✓ | 해석 → |
| C484R | Likely pathogenic | 0.996 | pathogenic | ✓ | 해석 → |
| C484S | Conflicting classifications of pathogeni | 0.999 | pathogenic | 해석 → | |
| C504Y | Pathogenic | 0.994 | pathogenic | ✓ | 해석 → |
| D269A | Likely pathogenic | 0.997 | pathogenic | ✓ | 해석 → |
| D269G | Pathogenic/Likely pathogenic | 0.989 | pathogenic | ✓ | 해석 → |
| D269N | Conflicting classifications of pathogeni | 0.977 | pathogenic | 해석 → | |
| D271H | Likely pathogenic | 0.994 | pathogenic | ✓ | 해석 → |
| D271N | Likely pathogenic | 0.979 | pathogenic | ✓ | 해석 → |
| D271Y | Conflicting classifications of pathogeni | 0.992 | pathogenic | 해석 → | |
| D273G | Likely pathogenic | 0.986 | pathogenic | ✓ | 해석 → |
| D273V | Likely pathogenic | 0.996 | pathogenic | ✓ | 해석 → |
| D290G | Conflicting classifications of pathogeni | 0.991 | pathogenic | 해석 → | |
| D290N | Likely pathogenic | 0.976 | pathogenic | ✓ | 해석 → |
| D290Y | Pathogenic | 0.994 | pathogenic | ✓ | 해석 → |
| D302G | Likely pathogenic | 0.943 | pathogenic | ✓ | 해석 → |
| D302V | Pathogenic | 0.974 | pathogenic | ✓ | 해석 → |
| D302Y | Likely pathogenic | 0.968 | pathogenic | ✓ | 해석 → |
| D317G | Conflicting classifications of pathogeni | 0.969 | pathogenic | 해석 → | |
| D317N | Pathogenic | 0.947 | pathogenic | ✓ | 해석 → |
| D317V | Conflicting classifications of pathogeni | 0.989 | pathogenic | 해석 → | |
| D317Y | Likely pathogenic | 0.987 | pathogenic | ✓ | 해석 → |
| D326N | Pathogenic/Likely pathogenic | 0.964 | pathogenic | ✓ | 해석 → |
| D342N | Likely pathogenic | 0.889 | pathogenic | ✓ | 해석 → |
| D342Y | Pathogenic | 0.976 | pathogenic | ✓ | 해석 → |
| D349G | Pathogenic | 0.983 | pathogenic | ✓ | 해석 → |
| D349H | Pathogenic | 0.992 | pathogenic | ✓ | 해석 → |
| D349N | Pathogenic | 0.937 | pathogenic | ✓ | 해석 → |
| D357F | Likely pathogenic | 0.469 | ambiguous | 해석 → | |
| D361V | Pathogenic | 0.955 | pathogenic | ✓ | 해석 → |
| D376G | Likely pathogenic | 0.962 | pathogenic | ✓ | 해석 → |
| D376H | Pathogenic | 0.985 | pathogenic | ✓ | 해석 → |
| D376N | Likely pathogenic | 0.934 | pathogenic | ✓ | 해석 → |
| D376V | Likely pathogenic | 0.988 | pathogenic | ✓ | 해석 → |
| D376Y | Likely pathogenic | 0.978 | pathogenic | ✓ | 해석 → |
| D378N | Pathogenic | 0.873 | pathogenic | ✓ | 해석 → |
| D385H | Likely pathogenic | 0.991 | pathogenic | ✓ | 해석 → |
| D385N | Pathogenic/Likely pathogenic | 0.927 | pathogenic | ✓ | 해석 → |
| D385Y | Pathogenic | 0.978 | pathogenic | ✓ | 해석 → |
| D397H | Likely pathogenic | 0.953 | pathogenic | ✓ | 해석 → |
| D397V | Likely pathogenic | 0.913 | pathogenic | ✓ | 해석 → |
| D399N | Likely pathogenic | 0.812 | pathogenic | ✓ | 해석 → |
| D399V | Conflicting classifications of pathogeni | 0.988 | pathogenic | 해석 → | |
| D401H | Likely pathogenic | 0.982 | pathogenic | ✓ | 해석 → |
| D401N | Pathogenic | 0.781 | pathogenic | ✓ | 해석 → |
| D401Y | Likely pathogenic | 0.969 | pathogenic | ✓ | 해석 → |
| D408N | Likely pathogenic | 0.911 | pathogenic | ✓ | 해석 → |
| D422A | Likely pathogenic | 0.981 | pathogenic | ✓ | 해석 → |
| D424Y | Conflicting classifications of pathogeni | 0.977 | pathogenic | 해석 → | |
| D435H | Likely pathogenic | 0.995 | pathogenic | ✓ | 해석 → |
| D435V | Likely pathogenic | 0.992 | pathogenic | ✓ | 해석 → |
| D437H | Pathogenic | 0.997 | pathogenic | ✓ | 해석 → |
| D437N | Likely pathogenic | 0.973 | pathogenic | ✓ | 해석 → |
| D437Y | Conflicting classifications of pathogeni | 0.989 | pathogenic | 해석 → | |
| D439E | Pathogenic/Likely pathogenic | 0.988 | pathogenic | ✓ | 해석 → |
| D439E | Pathogenic/Likely pathogenic | 0.988 | pathogenic | ✓ | 해석 → |
| D439G | Likely pathogenic | 0.984 | pathogenic | ✓ | 해석 → |
| D439N | Likely pathogenic | 0.953 | pathogenic | ✓ | 해석 → |
| D439Y | Pathogenic/Likely pathogenic | 0.987 | pathogenic | ✓ | 해석 → |
| D446H | Likely pathogenic | 0.996 | pathogenic | ✓ | 해석 → |
| D446N | Pathogenic | 0.963 | pathogenic | ✓ | 해석 → |
| D458G | Pathogenic | 0.905 | pathogenic | ✓ | 해석 → |
| D458Y | Likely pathogenic | 0.927 | pathogenic | ✓ | 해석 → |
| D471H | Likely pathogenic | 0.975 | pathogenic | ✓ | 해석 → |
| D472H | Pathogenic | 0.849 | pathogenic | ✓ | 해석 → |
| D472Y | Pathogenic | 0.811 | pathogenic | ✓ | 해석 → |
| D473G | Pathogenic | 0.969 | pathogenic | ✓ | 해석 → |
| D473H | Likely pathogenic | 0.992 | pathogenic | ✓ | 해석 → |
| D473N | Likely pathogenic | 0.918 | pathogenic | ✓ | 해석 → |
| D475G | Pathogenic | 0.963 | pathogenic | ✓ | 해석 → |
| D475N | Pathogenic | 0.897 | pathogenic | ✓ | 해석 → |
| D479H | Likely pathogenic | 0.973 | pathogenic | ✓ | 해석 → |
| D482A | Likely pathogenic | 0.995 | pathogenic | ✓ | 해석 → |
| D482N | Likely pathogenic | 0.963 | pathogenic | ✓ | 해석 → |
| D482V | Likely pathogenic | 0.995 | pathogenic | ✓ | 해석 → |
| D507E | Likely pathogenic | 0.985 | pathogenic | ✓ | 해석 → |
| D507G | Pathogenic | 0.976 | pathogenic | ✓ | 해석 → |
| D509E | Pathogenic | 0.983 | pathogenic | ✓ | 해석 → |
| D509G | Likely pathogenic | 0.979 | pathogenic | ✓ | 해석 → |
| D509V | Pathogenic | 0.991 | pathogenic | ✓ | 해석 → |
| D511E | Pathogenic/Likely pathogenic | 0.969 | pathogenic | ✓ | 해석 → |
| D515E | Likely pathogenic | 0.958 | pathogenic | ✓ | 해석 → |
| D515E | Pathogenic | 0.958 | pathogenic | ✓ | 해석 → |
| D515G | Pathogenic | 0.951 | pathogenic | ✓ | 해석 → |
| D518G | Pathogenic | 0.990 | pathogenic | ✓ | 해석 → |
| D518H | Pathogenic/Likely pathogenic | 0.992 | pathogenic | ✓ | 해석 → |
| D518N | Pathogenic | 0.972 | pathogenic | ✓ | 해석 → |
| E559K | Likely pathogenic | 0.973 | pathogenic | ✓ | 해석 → |
| G299R | Pathogenic/Likely pathogenic | 0.873 | pathogenic | ✓ | 해석 → |
| G299R | Pathogenic | 0.873 | pathogenic | ✓ | 해석 → |
| G309R | Pathogenic/Likely pathogenic | 0.990 | pathogenic | ✓ | 해석 → |
| G404R | Likely pathogenic | 0.976 | pathogenic | ✓ | 해석 → |
| G427A | Pathogenic/Likely pathogenic | 0.884 | pathogenic | ✓ | 해석 → |
| G427E | Pathogenic | 0.991 | pathogenic | ✓ | 해석 → |
| G427R | Likely pathogenic | 0.987 | pathogenic | ✓ | 해석 → |
| G427R | Likely pathogenic | 0.987 | pathogenic | ✓ | 해석 → |
| G440E | Pathogenic/Likely pathogenic | 0.975 | pathogenic | ✓ | 해석 → |
| G440R | Pathogenic/Likely pathogenic | 0.927 | pathogenic | ✓ | 해석 → |
| G440R | Pathogenic | 0.927 | pathogenic | ✓ | 해석 → |
| G440V | Pathogenic | 0.965 | pathogenic | ✓ | 해석 → |
| G465S | Conflicting classifications of pathogeni | 0.921 | pathogenic | 해석 → | |
| G465V | Likely pathogenic | 0.983 | pathogenic | ✓ | 해석 → |
| G501D | Pathogenic/Likely pathogenic | 0.986 | pathogenic | ✓ | 해석 → |
| G501S | Likely pathogenic | 0.880 | pathogenic | ✓ | 해석 → |
| G719C | Likely pathogenic | 0.992 | pathogenic | ✓ | 해석 → |
| G719D | Pathogenic/Likely pathogenic | 0.988 | pathogenic | ✓ | 해석 → |
| G719S | Pathogenic/Likely pathogenic | 0.845 | pathogenic | ✓ | 해석 → |
| H441R | Pathogenic | 0.150 | benign | ⚠ | 해석 → |
| H587R | Pathogenic/Likely pathogenic | 0.904 | pathogenic | ✓ | 해석 → |
| L272P | Pathogenic | 0.979 | pathogenic | ✓ | 해석 → |
| N297K | Likely pathogenic | 0.995 | pathogenic | ✓ | 해석 → |
| N415K | Likely pathogenic | 0.978 | pathogenic | ✓ | 해석 → |
| N453K | Pathogenic | 0.992 | pathogenic | ✓ | 해석 → |
| N453S | Pathogenic | 0.459 | ambiguous | 해석 → | |
| N453T | Likely pathogenic | 0.883 | pathogenic | ✓ | 해석 → |
| N489K | Pathogenic | 0.973 | pathogenic | ✓ | 해석 → |
| N489K | Pathogenic/Likely pathogenic | 0.973 | pathogenic | ✓ | 해석 → |
| N523K | Pathogenic/Likely pathogenic | 0.691 | pathogenic | ✓ | 해석 → |
| N523K | Pathogenic/Likely pathogenic | 0.691 | pathogenic | ✓ | 해석 → |
| N555K | Pathogenic/Likely pathogenic | 0.897 | pathogenic | ✓ | 해석 → |
| P276R | Pathogenic/Likely pathogenic | 0.964 | pathogenic | ✓ | 해석 → |
| P296L | Likely pathogenic | 0.904 | pathogenic | ✓ | 해석 → |
| P296R | Likely pathogenic | 0.955 | pathogenic | ✓ | 해석 → |
| P296S | Conflicting classifications of pathogeni | 0.709 | pathogenic | 해석 → | |
| Q456P | Likely pathogenic | 0.770 | pathogenic | ✓ | 해석 → |
| Q492P | Likely pathogenic | 0.763 | pathogenic | ✓ | 해석 → |
| Q604E | Pathogenic | 0.520 | ambiguous | 해석 → | |
| R485L | Likely pathogenic | 0.541 | ambiguous | 해석 → | |
| R718P | Pathogenic | 0.915 | pathogenic | ✓ | 해석 → |
| R718W | Pathogenic/Likely pathogenic | 0.379 | ambiguous | 해석 → | |
| S454R | Likely pathogenic | 0.975 | pathogenic | ✓ | 해석 → |
| T527A | Likely pathogenic | 0.131 | benign | ⚠ | 해석 → |
| T529A | Likely pathogenic | 0.778 | pathogenic | ✓ | 해석 → |
| T529N | Likely pathogenic | 0.903 | pathogenic | ✓ | 해석 → |
| T585M | Pathogenic | 0.852 | pathogenic | ✓ | 해석 → |
| T585R | Pathogenic | 0.983 | pathogenic | ✓ | 해석 → |
| V66E | Pathogenic | 0.970 | pathogenic | ✓ | 해석 → |
| Y610C | Uncertain significance | 0.954 | pathogenic | 해석 → | |
| *758Q | Uncertain significance | — | 미적재 | 해석 → | |
| A14T | Uncertain significance | 0.104 | benign | 해석 → | |
| A171T | Benign | 0.728 | pathogenic | ⚠ | 해석 → |
| A218V | Uncertain significance | 0.077 | benign | 해석 → | |
| A347E | Uncertain significance | 0.318 | benign | 해석 → | |
| A347G | Uncertain significance | 0.218 | benign | 해석 → | |
| A370V | Uncertain significance | 0.084 | benign | 해석 → | |
| A406V | Uncertain significance | 0.067 | benign | 해석 → | |
| A419V | Uncertain significance | 0.087 | benign | 해석 → | |
| A455T | Uncertain significance | 0.101 | benign | 해석 → | |
| A495E | Uncertain significance | 0.086 | benign | 해석 → | |
| A495T | Uncertain significance | 0.058 | benign | 해석 → | |
| A545V | Uncertain significance | 0.588 | pathogenic | 해석 → | |
| A624T | Uncertain significance | 0.345 | ambiguous | 해석 → | |
| A624V | Uncertain significance | 0.533 | ambiguous | 해석 → | |
| A631P | Uncertain significance | 0.993 | pathogenic | 해석 → | |
| A653T | Uncertain significance | 0.708 | pathogenic | 해석 → | |
| C114S | Uncertain significance | 0.995 | pathogenic | 해석 → | |
| C125Y | Uncertain significance | 0.997 | pathogenic | 해석 → | |
| C151Y | Uncertain significance | 0.994 | pathogenic | 해석 → | |
| C206* | Uncertain significance | — | 미적재 | 해석 → | |
| C229Y | Benign | 0.946 | pathogenic | ⚠ | 해석 → |
| C243Y | Uncertain significance | 0.970 | pathogenic | 해석 → | |
| C266R | Uncertain significance | 0.997 | pathogenic | 해석 → | |
| C292* | Uncertain significance | — | 미적재 | 해석 → | |
| C312* | Uncertain significance | — | 미적재 | 해석 → | |
| C312R | Uncertain significance | 0.994 | pathogenic | 해석 → | |
| C312Y | Uncertain significance | 0.994 | pathogenic | 해석 → | |
| C328Y | Uncertain significance | 0.994 | pathogenic | 해석 → | |
| C348* | Uncertain significance | — | 미적재 | 해석 → | |
| C387F | Uncertain significance | 0.991 | pathogenic | 해석 → | |
| C468W | Uncertain significance | 0.979 | pathogenic | 해석 → | |
| C484F | Uncertain significance | 0.996 | pathogenic | 해석 → | |
| C504R | Uncertain significance | 0.995 | pathogenic | 해석 → | |
| C741Y | Uncertain significance | 0.996 | pathogenic | 해석 → | |
| D127V | Uncertain significance | 0.916 | pathogenic | 해석 → |
AM 임계: 병원성 ≥ 0.564, 양성 < 0.34 (AlphaMissense 권장 컷오프, Cheng et al. Science 2023)
📚 데이터: NCBI ClinVar variant_summary (GRCh38, 최근 다운로드) + 우리 유전자 서브셋만 추출.