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

HOXD13: AM vs ClinVar 일치도

111 변이
✓ 둘 다 병원성
8
✓ 둘 다 양성
2
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
100
AM ↔ ClinVar 비교 가능 변이 11건 중 10건 일치 / 1건 불일치 — 일치도 90.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
G11A Conflicting classifications of pathogeni 0.104 benign 해석 →
G228A Pathogenic 0.369 ambiguous 해석 →
G228V Pathogenic 0.790 pathogenic ✓ 해석 →
I322L Pathogenic 0.999 pathogenic ✓ 해석 →
Q248* Pathogenic — 미적재 해석 →
Q325K Pathogenic 1.000 pathogenic ✓ 해석 →
Q325R Pathogenic 1.000 pathogenic ✓ 해석 →
R274* Conflicting classifications of pathogeni — 미적재 해석 →
R306G Pathogenic 0.999 pathogenic ✓ 해석 →
R306Q Pathogenic 0.998 pathogenic ✓ 해석 →
R306W Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R327* Likely pathogenic — 미적재 해석 →
S154* Pathogenic — 미적재 해석 →
S316C Conflicting classifications of pathogeni 0.963 pathogenic 해석 →
T313R Likely pathogenic 0.997 pathogenic ✓ 해석 →
A114V Uncertain significance 0.098 benign 해석 →
A124E Uncertain significance 0.672 pathogenic 해석 →
A14V Benign/Likely benign 0.302 benign ✓ 해석 →
A150V Uncertain significance 0.101 benign 해석 →
A157T Uncertain significance 0.073 benign 해석 →
A174T Uncertain significance 0.068 benign 해석 →
A187G Uncertain significance 0.166 benign 해석 →
A19G Uncertain significance 0.044 benign 해석 →
A22V Uncertain significance 0.103 benign 해석 →
A311G Uncertain significance 0.499 ambiguous 해석 →
A57V Uncertain significance 0.211 benign 해석 →
A64T Uncertain significance 0.172 benign 해석 →
A68P Uncertain significance 0.154 benign 해석 →
A68S Uncertain significance 0.106 benign 해석 →
A97G Uncertain significance 0.067 benign 해석 →
A97V Uncertain significance 0.111 benign 해석 →
D169E Uncertain significance 0.380 ambiguous 해석 →
D208V Uncertain significance 0.998 pathogenic 해석 →
D269N Uncertain significance 0.548 ambiguous 해석 →
D304E Uncertain significance 0.628 pathogenic 해석 →
E106Q Uncertain significance 0.222 benign 해석 →
E81K Uncertain significance 0.532 ambiguous 해석 →
G11E Uncertain significance 0.364 ambiguous 해석 →
G132R Uncertain significance 0.965 pathogenic 해석 →
G134S Uncertain significance 0.147 benign 해석 →
G195D Uncertain significance 0.843 pathogenic 해석 →
G205S Uncertain significance 0.096 benign 해석 →
G20R Uncertain significance 0.449 ambiguous 해석 →
G237R Uncertain significance 0.936 pathogenic 해석 →
G261R Uncertain significance 0.859 pathogenic 해석 →
G276R Uncertain significance 0.995 pathogenic 해석 →
G42V Uncertain significance 0.382 ambiguous 해석 →
G55A Uncertain significance 0.124 benign 해석 →
G55R Uncertain significance 0.498 ambiguous 해석 →
G73S Uncertain significance 0.105 benign 해석 →
H130R Uncertain significance 0.543 ambiguous 해석 →
H156Q Uncertain significance 0.144 benign 해석 →
H156Y Uncertain significance 0.130 benign 해석 →
H53L Uncertain significance 0.183 benign 해석 →
I297F Uncertain significance 0.512 ambiguous 해석 →
I297T Uncertain significance 0.419 ambiguous 해석 →
K105T Benign/Likely benign 0.469 ambiguous 해석 →
K152N Uncertain significance 0.837 pathogenic 해석 →
K188R Uncertain significance 0.119 benign 해석 →
M140R Uncertain significance 0.845 pathogenic 해석 →
M168V Uncertain significance 0.114 benign 해석 →
N181D Likely benign 0.149 benign ✓ 해석 →
P103S Uncertain significance 0.052 benign 해석 →
P119S Uncertain significance 0.069 benign 해석 →
P120Q Uncertain significance 0.131 benign 해석 →
P123L Uncertain significance 0.311 benign 해석 →
P179L Uncertain significance 0.151 benign 해석 →
P249A Uncertain significance 0.048 benign 해석 →
P99L Uncertain significance 0.189 benign 해석 →
P99R Uncertain significance 0.197 benign 해석 →
Q201R Uncertain significance 0.418 ambiguous 해석 →
Q248H Uncertain significance 0.324 benign 해석 →
Q250P Uncertain significance 0.063 benign 해석 →
Q287K Uncertain significance 0.999 pathogenic 해석 →
Q319K Uncertain significance 0.999 pathogenic 해석 →
Q39H Uncertain significance 0.162 benign 해석 →
R307Q Uncertain significance 0.895 pathogenic 해석 →
R308C Uncertain significance 0.811 pathogenic 해석 →
R308H Uncertain significance 0.505 ambiguous 해석 →
R318G Uncertain significance 0.998 pathogenic 해석 →
R327G Uncertain significance 1.000 pathogenic 해석 →
R41C Uncertain significance 0.862 pathogenic 해석 →
R56L Uncertain significance 0.340 benign 해석 →
R56Q Uncertain significance 0.318 benign 해석 →
R82C Uncertain significance 0.428 ambiguous 해석 →
R82H Uncertain significance 0.208 benign 해석 →
R82L Uncertain significance 0.298 benign 해석 →
S225C Uncertain significance 0.354 ambiguous 해석 →
S252F Uncertain significance 0.364 ambiguous 해석 →
S2R Uncertain significance 0.563 ambiguous 해석 →
S336C Uncertain significance 0.235 benign 해석 →
S54T Uncertain significance 0.103 benign 해석 →
S6R Uncertain significance 0.559 ambiguous 해석 →
S87W Uncertain significance 0.409 ambiguous 해석 →
T111M Uncertain significance 0.152 benign 해석 →
T197A Uncertain significance 0.062 benign 해석 →
T197S Uncertain significance 0.075 benign 해석 →
T245I Uncertain significance 0.269 benign 해석 →
T284P Uncertain significance 0.986 pathogenic 해석 →
T313A Uncertain significance 0.916 pathogenic 해석 →
T313P Uncertain significance 0.994 pathogenic 해석 →
T79A Uncertain significance 0.060 benign 해석 →
T79I Uncertain significance 0.182 benign 해석 →
T83M Uncertain significance 0.196 benign 해석 →
T83R Uncertain significance 0.207 benign 해석 →
V203M Uncertain significance 0.190 benign 해석 →
V272F Uncertain significance 0.408 ambiguous 해석 →
Y167C Conflicting classifications of pathogeni 0.508 ambiguous 해석 →
Y206C Benign 0.821 pathogenic ⚠ 해석 →
Y229C Uncertain significance 0.628 pathogenic 해석 →
Y295C Uncertain significance 1.000 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.