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

NRAS: AM vs ClinVar 일치도

147 변이
✓ 둘 다 병원성
21
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
1
— AM 미적재
124
AM ↔ ClinVar 비교 가능 변이 23건 중 21건 일치 / 2건 불일치 — 일치도 91.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A59D Likely pathogenic 1.000 pathogenic ✓ 해석 →
A59T Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
F90L Conflicting classifications of pathogeni 0.978 pathogenic 해석 →
G12A Pathogenic/Likely pathogenic 0.976 pathogenic ✓ 해석 →
G12C Pathogenic 0.999 pathogenic ✓ 해석 →
G12D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G12F Likely pathogenic 0.999 pathogenic ✓ 해석 →
G12R Pathogenic 0.999 pathogenic ✓ 해석 →
G12S Pathogenic 0.992 pathogenic ✓ 해석 →
G12V Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G13D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G13R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G13V Likely pathogenic 0.997 pathogenic ✓ 해석 →
G60E Pathogenic 1.000 pathogenic ✓ 해석 →
G60R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G60V Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
I24N Likely pathogenic 0.994 pathogenic ✓ 해석 →
I36M Likely pathogenic 0.989 pathogenic ✓ 해석 →
P34L Pathogenic 0.998 pathogenic ✓ 해석 →
Q150R Likely pathogenic 0.296 benign ⚠ 해석 →
Q61H Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
Q61K Conflicting classifications of pathogeni 0.985 pathogenic 해석 →
Q61L Conflicting classifications of pathogeni 0.974 pathogenic 해석 →
Q61P Pathogenic 0.998 pathogenic ✓ 해석 →
Q61R Pathogenic 0.991 pathogenic ✓ 해석 →
R68I Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
R68S Likely pathogenic 0.999 pathogenic ✓ 해석 →
T50I Pathogenic 0.497 ambiguous 해석 →
T50N Likely pathogenic 0.526 ambiguous 해석 →
T58I Pathogenic 1.000 pathogenic ✓ 해석 →
A11G Uncertain significance 0.363 ambiguous 해석 →
A11T Uncertain significance 0.773 pathogenic 해석 →
A146T Uncertain significance 0.994 pathogenic 해석 →
A155T Uncertain significance 0.801 pathogenic 해석 →
A155V Uncertain significance 0.854 pathogenic 해석 →
A91G Uncertain significance 0.144 benign 해석 →
A91V Uncertain significance 0.143 benign 해석 →
C181F Uncertain significance 0.131 benign 해석 →
C181Y Uncertain significance 0.190 benign 해석 →
C51Y Uncertain significance 0.993 pathogenic 해석 →
D107A Uncertain significance 0.264 benign 해석 →
D119G Uncertain significance 0.999 pathogenic 해석 →
D154G Uncertain significance 0.497 ambiguous 해석 →
D176Y Uncertain significance 0.124 benign 해석 →
D30N Uncertain significance 0.765 pathogenic 해석 →
D47G Uncertain significance 0.961 pathogenic 해석 →
D92N Uncertain significance 0.707 pathogenic 해석 →
E132K Uncertain significance 0.323 benign 해석 →
E132Q Uncertain significance 0.153 benign 해석 →
E153K Uncertain significance 0.944 pathogenic 해석 →
E49D Uncertain significance 0.460 ambiguous 해석 →
E49Q Uncertain significance 0.393 ambiguous 해석 →
F141L Uncertain significance 0.972 pathogenic 해석 →
F141L Uncertain significance 0.972 pathogenic 해석 →
F28C Uncertain significance 1.000 pathogenic 해석 →
F28Y Uncertain significance 0.894 pathogenic 해석 →
G138R Uncertain significance 0.330 benign 해석 →
G15A Uncertain significance 0.999 pathogenic 해석 →
G183A Uncertain significance 0.101 benign 해석 →
I100M Uncertain significance 0.825 pathogenic 해석 →
I100T Uncertain significance 0.997 pathogenic 해석 →
I142T Uncertain significance 0.407 ambiguous 해석 →
I142V Uncertain significance 0.071 benign 해석 →
I36T Uncertain significance 0.998 pathogenic 해석 →
I55T Uncertain significance 0.998 pathogenic 해석 →
I84V Uncertain significance 0.092 benign 해석 →
I93V Uncertain significance 0.089 benign 해석 →
K135R Uncertain significance 0.065 benign 해석 →
K147N Uncertain significance 0.997 pathogenic 해석 →
K88N Uncertain significance 0.801 pathogenic 해석 →
L171F Uncertain significance 0.115 benign 해석 →
L52M Uncertain significance 0.483 ambiguous 해석 →
L56V Uncertain significance 0.966 pathogenic 해석 →
L79F Uncertain significance 0.951 pathogenic 해석 →
L95F Uncertain significance 0.176 benign 해석 →
M111V Uncertain significance 0.200 benign 해석 →
M168I Uncertain significance 0.192 benign 해석 →
M168I Uncertain significance 0.192 benign 해석 →
M168K Uncertain significance 0.106 benign 해석 →
M168T Uncertain significance 0.146 benign 해석 →
M182I Uncertain significance 0.127 benign 해석 →
M182L Uncertain significance 0.073 benign 해석 →
M189V Uncertain significance 0.103 benign 해석 →
N85S Uncertain significance 0.227 benign 해석 →
P185L Uncertain significance 0.283 benign 해석 →
P185Q Uncertain significance 0.159 benign 해석 →
P185S Uncertain significance 0.118 benign 해석 →
P34R Uncertain significance 0.998 pathogenic 해석 →
Q129E Uncertain significance 0.079 benign 해석 →
Q150H Uncertain significance 0.489 ambiguous 해석 →
Q22* Uncertain significance — 미적재 해석 →
Q22R Uncertain significance 0.934 pathogenic 해석 →
Q25R Uncertain significance 0.909 pathogenic 해석 →
Q99H Uncertain significance 0.982 pathogenic 해석 →
R102* Uncertain significance — 미적재 해석 →
R102Q Uncertain significance 0.955 pathogenic 해석 →
R123K Uncertain significance 0.677 pathogenic 해석 →
R164C Conflicting classifications of pathogeni 0.885 pathogenic 해석 →
R164H Uncertain significance 0.709 pathogenic 해석 →
R164L Uncertain significance 0.937 pathogenic 해석 →
R164S Uncertain significance 0.984 pathogenic 해석 →
R167* Uncertain significance — 미적재 해석 →
R167L Uncertain significance 0.803 pathogenic 해석 →
R68T Uncertain significance 0.997 pathogenic 해석 →
S106L Uncertain significance 0.195 benign 해석 →
S145L Uncertain significance 0.998 pathogenic 해석 →
S87C Uncertain significance 0.113 benign 해석 →
S87N Uncertain significance 0.125 benign 해석 →
T122A Uncertain significance 0.065 benign 해석 →
T124A Conflicting classifications of pathogeni 0.078 benign 해석 →
T124I Uncertain significance 0.219 benign 해석 →
T127I Uncertain significance 0.184 benign 해석 →
T127R Uncertain significance 0.240 benign 해석 →
T144A Uncertain significance 0.603 pathogenic 해석 →
T148A Uncertain significance 0.611 pathogenic 해석 →
T148I Likely benign 0.877 pathogenic ⚠ 해석 →
T20A Uncertain significance 0.962 pathogenic 해석 →
T2A Uncertain significance 0.303 benign 해석 →
T2I Uncertain significance 0.778 pathogenic 해석 →
V109I Uncertain significance 0.181 benign 해석 →
V109L Uncertain significance 0.922 pathogenic 해석 →
V112L Uncertain significance 0.839 pathogenic 해석 →
V125I Uncertain significance 0.134 benign 해석 →
V14G Uncertain significance 0.896 pathogenic 해석 →
V152F Uncertain significance 0.996 pathogenic 해석 →
V152I Uncertain significance 0.424 ambiguous 해석 →
V160I Uncertain significance 0.500 ambiguous 해석 →
V188L Uncertain significance 0.148 benign 해석 →
V188M Uncertain significance 0.220 benign 해석 →
V29I Uncertain significance 0.445 ambiguous 해석 →
V8M Uncertain significance 0.961 pathogenic 해석 →
V9I Uncertain significance 0.566 pathogenic 해석 →
Y137* Uncertain significance — 미적재 해석 →
Y137C Uncertain significance 0.305 benign 해석 →
Y40C Uncertain significance 0.997 pathogenic 해석 →
Y96H Uncertain significance 0.959 pathogenic 해석 →
A59G - 0.987 pathogenic 해석 →
E37K - 0.999 pathogenic 해석 →
G15V - 1.000 pathogenic 해석 →
H27P - 0.990 pathogenic 해석 →
L56P - 1.000 pathogenic 해석 →
P110S - 0.991 pathogenic 해석 →
Q22H - 0.994 pathogenic 해석 →
Q25L - 0.872 pathogenic 해석 →
Q61H - 0.999 pathogenic 해석 →
R73G - 0.994 pathogenic 해석 →
T35S - 0.994 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.