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

CDKN2A: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
35
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
0
— AM 미적재
455
AM ↔ ClinVar 비교 가능 변이 45건 중 43건 일치 / 2건 불일치 — 일치도 95.6%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A102E Conflicting classifications of pathogeni 0.957 pathogenic 해석 →
A118V Conflicting classifications of pathogeni 0.850 pathogenic 해석 →
A127P Conflicting classifications of pathogeni 0.729 pathogenic 해석 →
A20P Conflicting classifications of pathogeni 0.952 pathogenic 해석 →
A60E Likely pathogenic 0.962 pathogenic ✓ 해석 →
A68* Pathogenic — 미적재 해석 →
A68L Likely pathogenic 0.809 pathogenic ✓ 해석 →
A68P Conflicting classifications of pathogeni 0.954 pathogenic 해석 →
A68V Conflicting classifications of pathogeni 0.676 pathogenic 해석 →
D108N Conflicting classifications of pathogeni 0.844 pathogenic 해석 →
D108Y Likely pathogenic 0.981 pathogenic ✓ 해석 →
D153N Conflicting classifications of pathogeni 0.126 benign 해석 →
D153Y Pathogenic/Likely pathogenic 0.142 benign ⚠ 해석 →
D84A Pathogenic/Likely pathogenic 0.840 pathogenic ✓ 해석 →
D84N Likely pathogenic 0.836 pathogenic ✓ 해석 →
D84V Likely pathogenic 0.844 pathogenic ✓ 해석 →
D84Y Conflicting classifications of pathogeni 0.754 pathogenic 해석 →
E10* Pathogenic — 미적재 해석 →
E120* Pathogenic — 미적재 해석 →
E26* Pathogenic — 미적재 해석 →
E27* Pathogenic — 미적재 해석 →
E33* Conflicting classifications of pathogeni — 미적재 해석 →
E69* Pathogenic — 미적재 해석 →
E69G Conflicting classifications of pathogeni 0.526 ambiguous 해석 →
E88* Pathogenic — 미적재 해석 →
G101W Pathogenic 0.950 pathogenic ✓ 해석 →
G23C Likely pathogenic 0.814 pathogenic ✓ 해석 →
G23D Pathogenic/Likely pathogenic 0.854 pathogenic ✓ 해석 →
G23R Pathogenic/Likely pathogenic 0.918 pathogenic ✓ 해석 →
G23S Likely pathogenic 0.688 pathogenic ✓ 해석 →
G35A Conflicting classifications of pathogeni 0.483 ambiguous 해석 →
G55D Pathogenic 0.905 pathogenic ✓ 해석 →
G65R Pathogenic/Likely pathogenic — 미적재 해석 →
G67R Conflicting classifications of pathogeni 0.503 ambiguous 해석 →
G67S Conflicting classifications of pathogeni 0.419 ambiguous 해석 →
G89D Pathogenic/Likely pathogenic 0.930 pathogenic ✓ 해석 →
H83Q Conflicting classifications of pathogeni 0.879 pathogenic 해석 →
H83Q Conflicting classifications of pathogeni 0.879 pathogenic 해석 →
H83R Conflicting classifications of pathogeni 0.943 pathogenic 해석 →
H83Y Conflicting classifications of pathogeni 0.786 pathogenic 해석 →
H98Y Uncertain significance 0.262 benign 해석 →
I49S Pathogenic/Likely pathogenic 0.941 pathogenic ✓ 해석 →
I49T Conflicting classifications of pathogeni 0.963 pathogenic 해석 →
L16P Pathogenic/Likely pathogenic 0.870 pathogenic ✓ 해석 →
L16R Pathogenic/Likely pathogenic 0.840 pathogenic ✓ 해석 →
L32P Pathogenic/Likely pathogenic 0.945 pathogenic ✓ 해석 →
L63P Conflicting classifications of pathogeni 0.978 pathogenic 해석 →
L65P Conflicting classifications of pathogeni 0.738 pathogenic 해석 →
L94P Likely pathogenic 0.969 pathogenic ✓ 해석 →
L94Q Conflicting classifications of pathogeni 0.943 pathogenic 해석 →
M1I Conflicting classifications of pathogeni 0.219 benign 해석 →
M1I Conflicting classifications of pathogeni 0.219 benign 해석 →
M1K Uncertain significance 0.181 benign 해석 →
M1T Conflicting classifications of pathogeni 0.109 benign 해석 →
M1V Conflicting classifications of pathogeni 0.068 benign 해석 →
M53I Pathogenic/Likely pathogenic 0.925 pathogenic ✓ 해석 →
M53I Pathogenic 0.925 pathogenic ✓ 해석 →
M53V Conflicting classifications of pathogeni 0.464 ambiguous 해석 →
N71K Likely pathogenic 0.962 pathogenic ✓ 해석 →
N71S Likely pathogenic 0.213 benign ⚠ 해석 →
P114L Conflicting classifications of pathogeni 0.881 pathogenic 해석 →
P114R Likely pathogenic 0.973 pathogenic ✓ 해석 →
P114S Conflicting classifications of pathogeni 0.862 pathogenic 해석 →
P38R Conflicting classifications of pathogeni 0.782 pathogenic 해석 →
P41Q Conflicting classifications of pathogeni 0.188 benign 해석 →
P48L Pathogenic/Likely pathogenic 0.897 pathogenic ✓ 해석 →
P48R Conflicting classifications of pathogeni 0.968 pathogenic 해석 →
P48T Pathogenic/Likely pathogenic 0.808 pathogenic ✓ 해석 →
P81L Likely pathogenic 0.841 pathogenic ✓ 해석 →
P81R Conflicting classifications of pathogeni 0.975 pathogenic 해석 →
P81S Conflicting classifications of pathogeni 0.860 pathogenic 해석 →
Q50* Pathogenic — 미적재 해석 →
Q50H Conflicting classifications of pathogeni 0.720 pathogenic 해석 →
Q50P Likely pathogenic 0.786 pathogenic ✓ 해석 →
Q50R Pathogenic/Likely pathogenic 0.840 pathogenic ✓ 해석 →
Q57* Pathogenic — 미적재 해석 →
Q58* Conflicting classifications of pathogeni — 미적재 해석 →
R112G Pathogenic/Likely pathogenic 0.737 pathogenic ✓ 해석 →
R19* Likely pathogenic — 미적재 해석 →
R24P Pathogenic/Likely pathogenic 0.914 pathogenic ✓ 해석 →
R58* Pathogenic — 미적재 해석 →
R58* Pathogenic — 미적재 해석 →
R80* Pathogenic/Likely pathogenic — 미적재 해석 →
R87G Conflicting classifications of pathogeni 0.804 pathogenic 해석 →
R87P Pathogenic 0.981 pathogenic ✓ 해석 →
R87W Likely pathogenic 0.632 pathogenic ✓ 해석 →
R99P Likely pathogenic 0.915 pathogenic ✓ 해석 →
S12* Pathogenic — 미적재 해석 →
S43* Pathogenic — 미적재 해석 →
S56I Pathogenic/Likely pathogenic 0.837 pathogenic ✓ 해석 →
V126D Pathogenic 0.936 pathogenic ✓ 해석 →
V59G Pathogenic/Likely pathogenic 0.641 pathogenic ✓ 해석 →
W110* Pathogenic — 미적재 해석 →
W110* Pathogenic — 미적재 해석 →
W110* Pathogenic — 미적재 해석 →
W15* Pathogenic — 미적재 해석 →
W15* Pathogenic — 미적재 해석 →
W34* Pathogenic/Likely pathogenic — 미적재 해석 →
Y129* Pathogenic — 미적재 해석 →
Y44* Pathogenic — 미적재 해석 →
Y44* Pathogenic — 미적재 해석 →
Y44* Pathogenic — 미적재 해석 →
Y44* Pathogenic — 미적재 해석 →
*157C Uncertain significance — 미적재 해석 →
*157L Uncertain significance — 미적재 해석 →
*157L Uncertain significance — 미적재 해석 →
A100S Conflicting classifications of pathogeni 0.150 benign 해석 →
A100T Uncertain significance 0.253 benign 해석 →
A100V Uncertain significance 0.265 benign 해석 →
A102L Uncertain significance 0.718 pathogenic 해석 →
A102S Uncertain significance 0.274 benign 해석 →
A102T Uncertain significance 0.602 pathogenic 해석 →
A102V Uncertain significance 0.639 pathogenic 해석 →
A109D Uncertain significance 0.459 ambiguous 해석 →
A109P Uncertain significance 0.376 ambiguous 해석 →
A109S Uncertain significance 0.144 benign 해석 →
A109T Uncertain significance 0.167 benign 해석 →
A118T Uncertain significance 0.846 pathogenic 해석 →
A127S Benign/Likely benign 0.151 benign ✓ 해석 →
A127V Uncertain significance 0.144 benign 해석 →
A132G Uncertain significance 0.124 benign 해석 →
A132T Uncertain significance 0.110 benign 해석 →
A132V Uncertain significance 0.147 benign 해석 →
A133S Uncertain significance 0.128 benign 해석 →
A133T Uncertain significance 0.125 benign 해석 →
A133V Uncertain significance 0.141 benign 해석 →
A134G Uncertain significance 0.079 benign 해석 →
A134P Uncertain significance 0.184 benign 해석 →
A134S Uncertain significance 0.089 benign 해석 →
A134V Uncertain significance 0.135 benign 해석 →
A13D Uncertain significance 0.369 ambiguous 해석 →
A13S Uncertain significance 0.127 benign 해석 →
A13V Uncertain significance 0.246 benign 해석 →
A143G Uncertain significance 0.078 benign 해석 →
A143S Uncertain significance 0.084 benign 해석 →
A143T Conflicting classifications of pathogeni 0.085 benign 해석 →
A143V Uncertain significance 0.111 benign 해석 →
A147V Uncertain significance 0.102 benign 해석 →
A148P Uncertain significance 0.088 benign 해석 →
A148S Uncertain significance 0.087 benign 해석 →
A148T Benign 0.080 benign ✓ 해석 →
A148V Uncertain significance 0.107 benign 해석 →
A14P Uncertain significance — 미적재 해석 →
A14T Conflicting classifications of pathogeni — 미적재 해석 →
A17D Uncertain significance 0.826 pathogenic 해석 →
A17F Uncertain significance 0.559 ambiguous 해석 →
A17G Uncertain significance 0.231 benign 해석 →
A17V Uncertain significance 0.401 ambiguous 해석 →
A19D Uncertain significance 0.943 pathogenic 해석 →
A19S Uncertain significance 0.302 benign 해석 →
A19T Uncertain significance 0.615 pathogenic 해석 →
A20E Uncertain significance 0.977 pathogenic 해석 →
A20G Uncertain significance 0.539 ambiguous 해석 →
A20S Uncertain significance 0.314 benign 해석 →
A20T Uncertain significance 0.499 ambiguous 해석 →
A20V Uncertain significance 0.497 ambiguous 해석 →
A21D Uncertain significance 0.908 pathogenic 해석 →
A21S Uncertain significance 0.182 benign 해석 →
A21T Uncertain significance 0.442 ambiguous 해석 →
A21V Uncertain significance 0.440 ambiguous 해석 →
A30E Likely benign 0.095 benign ✓ 해석 →
A30G Uncertain significance 0.118 benign 해석 →
A30T Uncertain significance 0.107 benign 해석 →
A30V Uncertain significance 0.133 benign 해석 →
A34G Uncertain significance 0.132 benign 해석 →
A34T Uncertain significance 0.152 benign 해석 →
A34V Uncertain significance 0.221 benign 해석 →
A35P Uncertain significance — 미적재 해석 →
A35S Uncertain significance — 미적재 해석 →
A35V Uncertain significance — 미적재 해석 →
A36E Uncertain significance 0.447 ambiguous 해석 →
A36P Uncertain significance 0.783 pathogenic 해석 →
A36S Uncertain significance 0.136 benign 해석 →
A36T Uncertain significance 0.162 benign 해석 →
A36V Uncertain significance 0.144 benign 해석 →
A36V Uncertain significance 0.144 benign 해석 →
A39P Uncertain significance — 미적재 해석 →
A39T Conflicting classifications of pathogeni — 미적재 해석 →
A40P Uncertain significance 0.561 ambiguous 해석 →
A40S Uncertain significance 0.133 benign 해석 →
A40T Uncertain significance 0.109 benign 해석 →
A40V Uncertain significance 0.130 benign 해석 →
A41T Uncertain significance — 미적재 해석 →
A41V Uncertain significance — 미적재 해석 →
A42S Uncertain significance — 미적재 해석 →
A42T Uncertain significance — 미적재 해석 →
A42V Uncertain significance — 미적재 해석 →
A44S Uncertain significance — 미적재 해석 →
A44T Uncertain significance — 미적재 해석 →
A44V Uncertain significance — 미적재 해석 →
A4G Conflicting classifications of pathogeni 0.084 benign 해석 →
A4T Uncertain significance 0.087 benign 해석 →
A4V Conflicting classifications of pathogeni 0.112 benign 해석 →
A57D Uncertain significance 0.441 ambiguous 해석 →
A57G Uncertain significance 0.139 benign 해석 →
A57T Likely benign 0.100 benign ✓ 해석 →
A57V Conflicting classifications of pathogeni 0.153 benign 해석 →
A5E Uncertain significance 0.099 benign 해석 →
A5T Uncertain significance 0.089 benign 해석 →
A5V Uncertain significance 0.118 benign 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.