ClinVar 임상 비교

AlphaMissense AI 예측 vs ClinVar 실제 임상 분류 — 일치/불일치 분석

전체 일치도 대시보드 ClinVar
ClinVar 변이 (서브셋)
319,822
우리 보유 유전자만
커버 유전자
308
병원성/가능 변이
56,770
AM과 교차 가능
154,518
단백질 변이 추출
유전자별 AM 예측 vs ClinVar 임상 분류 일치도

EGFR: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
17
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
1
— AM 미적재
473
AM ↔ ClinVar 비교 가능 변이 27건 중 25건 일치 / 2건 불일치 — 일치도 92.6%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A237F Likely pathogenic 0.945 pathogenic ✓ 해석 →
A763T Pathogenic 0.972 pathogenic ✓ 해석 →
C1049* Pathogenic — 미적재 해석 →
C326F Pathogenic 0.994 pathogenic ✓ 해석 →
C535* Pathogenic — 미적재 해석 →
E330K Conflicting classifications of pathogeni 0.123 benign 해석 →
E513* Conflicting classifications of pathogeni — 미적재 해석 →
E709A Uncertain significance 0.900 pathogenic 해석 →
E884* Pathogenic — 미적재 해석 →
E931* Conflicting classifications of pathogeni — 미적재 해석 →
G428D Pathogenic 0.998 pathogenic ✓ 해석 →
G598R Pathogenic 0.701 pathogenic ✓ 해석 →
G719A Pathogenic 0.993 pathogenic ✓ 해석 →
G719C Pathogenic; drug response 0.999 pathogenic ✓ 해석 →
G719R Likely pathogenic; drug response 1.000 pathogenic ✓ 해석 →
G719S Uncertain significance; drug response 0.998 pathogenic 해석 →
G796S Conflicting classifications of pathogeni 0.945 pathogenic 해석 →
G863S Uncertain significance 0.187 benign 해석 →
H835L Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
I365N Pathogenic 0.999 pathogenic ✓ 해석 →
I646F Likely pathogenic 0.204 benign ⚠ 해석 →
K293* Pathogenic — 미적재 해석 →
K852T Likely pathogenic 0.894 pathogenic ✓ 해석 →
L833F Likely pathogenic 0.972 pathogenic ✓ 해석 →
L833V Conflicting classifications of pathogeni 0.625 pathogenic 해석 →
L858R drug response 0.997 pathogenic 해석 →
L861Q Likely pathogenic; drug response 0.997 pathogenic ✓ 해석 →
L907* Pathogenic — 미적재 해석 →
N1184K Conflicting classifications of pathogeni 0.282 benign 해석 →
P596S Pathogenic 0.796 pathogenic ✓ 해석 →
Q1021* Pathogenic — 미적재 해석 →
Q52* Conflicting classifications of pathogeni — 미적재 해석 →
Q71* Conflicting classifications of pathogeni — 미적재 해석 →
Q791* Pathogenic — 미적재 해석 →
Q849* Conflicting classifications of pathogeni — 미적재 해석 →
Q982L Conflicting classifications of pathogeni 0.344 ambiguous 해석 →
R255* Conflicting classifications of pathogeni — 미적재 해석 →
R309* Conflicting classifications of pathogeni — 미적재 해석 →
R531* Conflicting classifications of pathogeni — 미적재 해석 →
R669* Pathogenic — 미적재 해석 →
R776C Uncertain significance 0.842 pathogenic 해석 →
R776H Conflicting classifications of pathogeni 0.649 pathogenic 해석 →
R831H Conflicting classifications of pathogeni 0.117 benign 해석 →
R836C Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
R973* Pathogenic — 미적재 해석 →
R98* Conflicting classifications of pathogeni — 미적재 해석 →
S1071* Pathogenic — 미적재 해석 →
S768I Pathogenic 0.902 pathogenic ✓ 해석 →
S768I Pathogenic 0.902 pathogenic ✓ 해석 →
T790M drug response 0.966 pathogenic 해석 →
T854I Pathogenic 0.998 pathogenic ✓ 해석 →
V802I Uncertain significance 0.087 benign 해석 →
V834L Pathogenic 0.992 pathogenic ✓ 해석 →
V843I Conflicting classifications of pathogeni 0.182 benign 해석 →
V845L Conflicting classifications of pathogeni 0.638 pathogenic 해석 →
W477* Pathogenic — 미적재 해석 →
W608* Pathogenic — 미적재 해석 →
W817* Pathogenic — 미적재 해석 →
W905* Conflicting classifications of pathogeni — 미적재 해석 →
W951* Pathogenic — 미적재 해석 →
Y113* Pathogenic — 미적재 해석 →
Y117* Conflicting classifications of pathogeni — 미적재 해석 →
Y801C Conflicting classifications of pathogeni 0.895 pathogenic 해석 →
Y915* Pathogenic — 미적재 해석 →
*1211R Uncertain significance — 미적재 해석 →
A1000D Uncertain significance 0.224 benign 해석 →
A1000T Uncertain significance 0.074 benign 해석 →
A1000V Likely benign 0.116 benign ✓ 해석 →
A1040E Uncertain significance 0.206 benign 해석 →
A1040T Likely benign 0.070 benign ✓ 해석 →
A1040V Uncertain significance 0.092 benign 해석 →
A1048T Uncertain significance 0.063 benign 해석 →
A1048V Conflicting classifications of pathogeni 0.086 benign 해석 →
A1076D Uncertain significance 0.098 benign 해석 →
A1076L Uncertain significance 0.066 benign 해석 →
A1076P Uncertain significance 0.071 benign 해석 →
A1076T Uncertain significance 0.060 benign 해석 →
A1076V Uncertain significance 0.066 benign 해석 →
A10E Uncertain significance 0.515 ambiguous 해석 →
A10G Uncertain significance 0.099 benign 해석 →
A10T Uncertain significance 0.196 benign 해석 →
A10V Uncertain significance 0.140 benign 해석 →
A1102S Uncertain significance 0.072 benign 해석 →
A1102T Conflicting classifications of pathogeni 0.069 benign 해석 →
A1118S Uncertain significance 0.069 benign 해석 →
A1118T Conflicting classifications of pathogeni 0.062 benign 해석 →
A1118V Conflicting classifications of pathogeni 0.062 benign 해석 →
A1155G Uncertain significance 0.072 benign 해석 →
A1158T Uncertain significance 0.068 benign 해석 →
A1158V Uncertain significance 0.071 benign 해석 →
A118D Uncertain significance 0.991 pathogenic 해석 →
A118S Uncertain significance 0.111 benign 해석 →
A118T Uncertain significance 0.475 ambiguous 해석 →
A1192D Uncertain significance 0.451 ambiguous 해석 →
A1192G Uncertain significance 0.176 benign 해석 →
A1192T Uncertain significance 0.129 benign 해석 →
A1192V Uncertain significance 0.156 benign 해석 →
A1201E Uncertain significance 0.294 benign 해석 →
A1201T Conflicting classifications of pathogeni 0.113 benign 해석 →
A1201V Uncertain significance 0.150 benign 해석 →
A120E Uncertain significance 0.898 pathogenic 해석 →
A120T Uncertain significance 0.159 benign 해석 →
A1210V Conflicting classifications of pathogeni 0.127 benign 해석 →
A127T Conflicting classifications of pathogeni 0.065 benign 해석 →
A127V Conflicting classifications of pathogeni 0.084 benign 해석 →
A13E Uncertain significance 0.537 ambiguous 해석 →
A13S Uncertain significance 0.159 benign 해석 →
A13T Conflicting classifications of pathogeni 0.180 benign 해석 →
A13V Conflicting classifications of pathogeni 0.092 benign 해석 →
A147P Uncertain significance 0.567 pathogenic 해석 →
A147S Uncertain significance 0.084 benign 해석 →
A147T Uncertain significance 0.124 benign 해석 →
A147V Uncertain significance 0.242 benign 해석 →
A155D Conflicting classifications of pathogeni 0.138 benign 해석 →
A155S Uncertain significance 0.064 benign 해석 →
A155T Uncertain significance 0.066 benign 해석 →
A155V Likely benign 0.069 benign ✓ 해석 →
A16S Uncertain significance 0.155 benign 해석 →
A16T Uncertain significance 0.183 benign 해석 →
A17T Uncertain significance 0.161 benign 해석 →
A17V Conflicting classifications of pathogeni 0.127 benign 해석 →
A202V Uncertain significance 0.096 benign 해석 →
A21S Conflicting classifications of pathogeni 0.080 benign 해석 →
A21T Conflicting classifications of pathogeni 0.104 benign 해석 →
A21V Uncertain significance 0.110 benign 해석 →
A237T Uncertain significance 0.805 pathogenic 해석 →
A238T Uncertain significance 0.502 ambiguous 해석 →
A24D Uncertain significance 0.199 benign 해석 →
A24S Likely benign 0.098 benign ✓ 해석 →
A24T Conflicting classifications of pathogeni 0.187 benign 해석 →
A289T Uncertain significance 0.610 pathogenic 해석 →
A310G Uncertain significance 0.175 benign 해석 →
A310V Uncertain significance 0.167 benign 해석 →
A313T Uncertain significance 0.066 benign 해석 →
A313V Conflicting classifications of pathogeni 0.080 benign 해석 →
A353S Uncertain significance 0.099 benign 해석 →
A409D Uncertain significance 0.456 ambiguous 해석 →
A409S Conflicting classifications of pathogeni 0.095 benign 해석 →
A419P Uncertain significance 0.229 benign 해석 →
A419V Uncertain significance 0.205 benign 해석 →
A439V Uncertain significance 0.749 pathogenic 해석 →
A472E Uncertain significance 0.688 pathogenic 해석 →
A472T Uncertain significance 0.157 benign 해석 →
A501T Uncertain significance 0.074 benign 해석 →
A508G Uncertain significance 0.092 benign 해석 →
A508T Uncertain significance 0.067 benign 해석 →
A566T Uncertain significance 0.070 benign 해석 →
A583P Uncertain significance 0.865 pathogenic 해석 →
A583V Uncertain significance 0.132 benign 해석 →
A597S Uncertain significance 0.076 benign 해석 →
A597V Uncertain significance 0.135 benign 해석 →
A611S Uncertain significance 0.097 benign 해석 →
A611T Conflicting classifications of pathogeni 0.121 benign 해석 →
A611V Uncertain significance 0.163 benign 해석 →
A613T Conflicting classifications of pathogeni 0.068 benign 해석 →
A647P Uncertain significance 0.622 pathogenic 해석 →
A647S Uncertain significance 0.192 benign 해석 →
A647T Uncertain significance 0.168 benign 해석 →
A647V Uncertain significance 0.182 benign 해석 →
A653D Uncertain significance 0.908 pathogenic 해석 →
A653T Uncertain significance 0.079 benign 해석 →
A653V Uncertain significance 0.074 benign 해석 →
A698V Uncertain significance 0.330 benign 해석 →
A702G Uncertain significance 0.784 pathogenic 해석 →
A702V Uncertain significance 0.666 pathogenic 해석 →
A722S Uncertain significance 0.874 pathogenic 해석 →
A722V Conflicting classifications of pathogeni 0.982 pathogenic 해석 →
A743T Uncertain significance 0.987 pathogenic 해석 →
A743V Uncertain significance 0.989 pathogenic 해석 →
A750P Uncertain significance 0.870 pathogenic 해석 →
A750V Uncertain significance 0.320 benign 해석 →
A755T Uncertain significance 0.646 pathogenic 해석 →
A763V Uncertain significance 0.973 pathogenic 해석 →
A767S Uncertain significance 0.597 pathogenic 해석 →
A767V Uncertain significance 0.989 pathogenic 해석 →
A7D Uncertain significance 0.351 ambiguous 해석 →
A7P Uncertain significance 0.125 benign 해석 →
A7T Likely benign 0.167 benign ✓ 해석 →
A822P Uncertain significance 0.999 pathogenic 해석 →
A822S Uncertain significance 0.557 ambiguous 해석 →
A822T Uncertain significance 0.988 pathogenic 해석 →
A839T Uncertain significance 0.999 pathogenic 해석 →
A840T Conflicting classifications of pathogeni 0.963 pathogenic 해석 →
A859S Uncertain significance 0.645 pathogenic 해석 →
A864T Uncertain significance 0.138 benign 해석 →
A864V Uncertain significance 0.198 benign 해석 →
A86S Uncertain significance 0.113 benign 해석 →
A86T Uncertain significance 0.229 benign 해석 →
A86V Uncertain significance 0.534 ambiguous 해석 →
A871E Uncertain significance 0.899 pathogenic 해석 →
A871G Uncertain significance 0.733 pathogenic 해석 →
A871P Uncertain significance 0.986 pathogenic 해석 →
A920D Uncertain significance 0.994 pathogenic 해석 →
A920S Uncertain significance 0.457 ambiguous 해석 →
A920T Uncertain significance 0.720 pathogenic 해석 →
A920V Uncertain significance 0.825 pathogenic 해석 →
A955P Uncertain significance 0.439 ambiguous 해석 →
A955T Uncertain significance 0.579 pathogenic 해석 →
A972D Uncertain significance 0.999 pathogenic 해석 →
A972T Uncertain significance 0.953 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.