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

CELSR1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
48
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
1
— AM 미적재
449
AM ↔ ClinVar 비교 가능 변이 51건 중 49건 일치 / 2건 불일치 — 일치도 96.1%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
D1201N Conflicting classifications of pathogeni 0.088 benign 해석 →
E290* Likely pathogenic — 미적재 해석 →
L1479H Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
L979F Likely pathogenic 0.147 benign ⚠ 해석 →
R1838* Likely pathogenic — 미적재 해석 →
T1472S Conflicting classifications of pathogeni 0.368 ambiguous 해석 →
V673A Likely pathogenic 0.876 pathogenic ✓ 해석 →
W1957* Pathogenic — 미적재 해석 →
A1019S Benign 0.170 benign ✓ 해석 →
A1032T Uncertain significance 0.705 pathogenic 해석 →
A107E Uncertain significance 0.147 benign 해석 →
A116T Uncertain significance 0.090 benign 해석 →
A1174E Uncertain significance 0.852 pathogenic 해석 →
A118V Uncertain significance 0.091 benign 해석 →
A1233T Likely benign 0.062 benign ✓ 해석 →
A1374G Uncertain significance 0.092 benign 해석 →
A1374T Uncertain significance 0.071 benign 해석 →
A1402T Uncertain significance 0.067 benign 해석 →
A141V Uncertain significance 0.101 benign 해석 →
A142G Uncertain significance 0.074 benign 해석 →
A1648T Uncertain significance 0.108 benign 해석 →
A16T Uncertain significance 0.229 benign 해석 →
A1826T Uncertain significance 0.068 benign 해석 →
A1861T Uncertain significance 0.423 ambiguous 해석 →
A1890P Uncertain significance 0.265 benign 해석 →
A203V Uncertain significance 0.111 benign 해석 →
A205V Uncertain significance 0.096 benign 해석 →
A2075V Benign 0.251 benign ✓ 해석 →
A2137V Uncertain significance 0.101 benign 해석 →
A2181T Conflicting classifications of pathogeni 0.091 benign 해석 →
A2193T Uncertain significance 0.083 benign 해석 →
A2201T Uncertain significance 0.073 benign 해석 →
A2228E Uncertain significance 0.714 pathogenic 해석 →
A225V Uncertain significance 0.075 benign 해석 →
A2337T Uncertain significance 0.189 benign 해석 →
A2339V Uncertain significance 0.136 benign 해석 →
A2399T Likely benign 0.068 benign ✓ 해석 →
A2419V Uncertain significance 0.079 benign 해석 →
A2442T Likely benign 0.064 benign ✓ 해석 →
A2442V Uncertain significance 0.084 benign 해석 →
A2475T Uncertain significance 0.091 benign 해석 →
A2486P Uncertain significance 0.504 ambiguous 해석 →
A2508S Uncertain significance 0.107 benign 해석 →
A2547V Uncertain significance 0.334 benign 해석 →
A2616V Uncertain significance 0.093 benign 해석 →
A2657S Uncertain significance 0.068 benign 해석 →
A2657T Uncertain significance 0.096 benign 해석 →
A2666T Uncertain significance 0.091 benign 해석 →
A269V Uncertain significance 0.548 ambiguous 해석 →
A2913T Likely benign 0.065 benign ✓ 해석 →
A2955T Uncertain significance 0.075 benign 해석 →
A2977T Uncertain significance 0.066 benign 해석 →
A29V Uncertain significance 0.142 benign 해석 →
A325S Uncertain significance 0.596 pathogenic 해석 →
A396S Uncertain significance 0.078 benign 해석 →
A41V Uncertain significance 0.111 benign 해석 →
A43P Uncertain significance 0.082 benign 해석 →
A43S Uncertain significance 0.089 benign 해석 →
A492S Uncertain significance 0.183 benign 해석 →
A492T Uncertain significance 0.809 pathogenic 해석 →
A504V Likely benign 0.167 benign ✓ 해석 →
A608T Uncertain significance 0.068 benign 해석 →
A617S Uncertain significance 0.072 benign 해석 →
A617T Uncertain significance 0.065 benign 해석 →
A659V Uncertain significance 0.385 ambiguous 해석 →
A700V Uncertain significance 0.236 benign 해석 →
A74T Uncertain significance 0.100 benign 해석 →
A761V Uncertain significance 0.109 benign 해석 →
A773V Benign 0.096 benign ✓ 해석 →
A857T Uncertain significance 0.078 benign 해석 →
A94V Uncertain significance 0.139 benign 해석 →
A962V Uncertain significance 0.235 benign 해석 →
A97S Uncertain significance 0.087 benign 해석 →
A981S Uncertain significance 0.084 benign 해석 →
A981T Uncertain significance 0.090 benign 해석 →
C1126Y Uncertain significance 0.085 benign 해석 →
C139G Likely benign 0.038 benign ✓ 해석 →
C139R Likely benign 0.070 benign ✓ 해석 →
C1653Y Uncertain significance 0.966 pathogenic 해석 →
C1673G Uncertain significance 0.914 pathogenic 해석 →
C185* Uncertain significance — 미적재 해석 →
C1987R Uncertain significance 0.989 pathogenic 해석 →
C2036Y Uncertain significance 0.995 pathogenic 해석 →
C2531G Uncertain significance 0.958 pathogenic 해석 →
C2797S Benign 0.062 benign ✓ 해석 →
C2976G Likely benign 0.045 benign ✓ 해석 →
D1050N Uncertain significance 0.298 benign 해석 →
D1136N Likely benign 0.374 ambiguous 해석 →
D1165N Uncertain significance 0.138 benign 해석 →
D1252E Uncertain significance 0.333 benign 해석 →
D1303N Uncertain significance 0.824 pathogenic 해석 →
D1370E Uncertain significance 0.114 benign 해석 →
D1370G Uncertain significance 0.086 benign 해석 →
D1370N Likely benign 0.056 benign ✓ 해석 →
D1498E Uncertain significance 0.112 benign 해석 →
D1609Y Uncertain significance 0.183 benign 해석 →
D1771N Likely benign 0.174 benign ✓ 해석 →
D1808Y Uncertain significance 0.121 benign 해석 →
D1874G Uncertain significance 0.243 benign 해석 →
D1893Y Uncertain significance 0.130 benign 해석 →
D1899G Uncertain significance 0.139 benign 해석 →
D1899N Uncertain significance 0.080 benign 해석 →
D1977E Conflicting classifications of pathogeni 0.312 benign 해석 →
D2004N Uncertain significance 0.120 benign 해석 →
D2016N Uncertain significance 0.099 benign 해석 →
D2037N Uncertain significance 0.499 ambiguous 해석 →
D2182N Uncertain significance 0.065 benign 해석 →
D2267N Uncertain significance 0.088 benign 해석 →
D2286G Uncertain significance 0.117 benign 해석 →
D2286N Uncertain significance 0.108 benign 해석 →
D2358N Uncertain significance 0.333 benign 해석 →
D2567N Uncertain significance 0.142 benign 해석 →
D2678N Uncertain significance 0.172 benign 해석 →
D2804N Uncertain significance 0.163 benign 해석 →
D2831N Uncertain significance 0.103 benign 해석 →
D2865N Uncertain significance 0.073 benign 해석 →
D2956N Uncertain significance 0.082 benign 해석 →
D2975N Uncertain significance 0.093 benign 해석 →
D3007A Uncertain significance 0.065 benign 해석 →
D3007N Uncertain significance 0.075 benign 해석 →
D312N Uncertain significance 0.858 pathogenic 해석 →
D431N Uncertain significance 0.981 pathogenic 해석 →
D451N Uncertain significance 0.977 pathogenic 해석 →
D557G Uncertain significance 0.984 pathogenic 해석 →
D66H Uncertain significance 0.165 benign 해석 →
D70H Uncertain significance 0.141 benign 해석 →
D884N Uncertain significance 0.894 pathogenic 해석 →
D936N Uncertain significance 0.249 benign 해석 →
E1009G Uncertain significance 0.142 benign 해석 →
E1069K Uncertain significance 0.158 benign 해석 →
E1147K Uncertain significance 0.350 ambiguous 해석 →
E1177A Uncertain significance 0.129 benign 해석 →
E1177V Uncertain significance 0.181 benign 해석 →
E1313K Uncertain significance 0.220 benign 해석 →
E1391Q Likely benign 0.072 benign ✓ 해석 →
E1499K Likely benign 0.132 benign ✓ 해석 →
E1773D Uncertain significance 0.180 benign 해석 →
E1780K Uncertain significance 0.310 benign 해석 →
E2123Q Uncertain significance 0.127 benign 해석 →
E2210K Uncertain significance 0.218 benign 해석 →
E2276Q Uncertain significance 0.159 benign 해석 →
E2293G Uncertain significance 0.063 benign 해석 →
E2293K Benign 0.067 benign ✓ 해석 →
E2318K Uncertain significance 0.085 benign 해석 →
E2432K Uncertain significance 0.169 benign 해석 →
E2757K Uncertain significance 0.179 benign 해석 →
E276* Uncertain significance — 미적재 해석 →
E2815G Uncertain significance 0.192 benign 해석 →
E2815V Uncertain significance 0.435 ambiguous 해석 →
E2829K Uncertain significance 0.228 benign 해석 →
E2895K Uncertain significance 0.095 benign 해석 →
E2903Q Benign 0.078 benign ✓ 해석 →
E2958K Uncertain significance 0.076 benign 해석 →
E367G Uncertain significance 0.472 ambiguous 해석 →
E404D Uncertain significance 0.124 benign 해석 →
E404K Uncertain significance 0.174 benign 해석 →
E404Q Uncertain significance 0.122 benign 해석 →
E693G Uncertain significance 0.327 benign 해석 →
E849G Uncertain significance 0.143 benign 해석 →
E879G Uncertain significance 0.691 pathogenic 해석 →
E879K Uncertain significance 0.537 ambiguous 해석 →
F1104L Uncertain significance 0.982 pathogenic 해석 →
F1190S Uncertain significance 0.092 benign 해석 →
F1243L Uncertain significance 0.920 pathogenic 해석 →
F1302L Uncertain significance 0.996 pathogenic 해석 →
F1390S Uncertain significance 0.082 benign 해석 →
F2059L Uncertain significance 0.949 pathogenic 해석 →
F2102L Uncertain significance 0.946 pathogenic 해석 →
F2288L Uncertain significance 0.802 pathogenic 해석 →
F2413V Uncertain significance 0.284 benign 해석 →
F2518L Benign/Likely benign 0.940 pathogenic ⚠ 해석 →
F2529L Uncertain significance 0.757 pathogenic 해석 →
F2602* Uncertain significance — 미적재 해석 →
F2682S Uncertain significance 0.429 ambiguous 해석 →
F2700S Uncertain significance 0.151 benign 해석 →
F2744L Uncertain significance 0.427 ambiguous 해석 →
F931I Uncertain significance 0.777 pathogenic 해석 →
G1122A Uncertain significance 0.289 benign 해석 →
G124D Uncertain significance 0.103 benign 해석 →
G124S Uncertain significance 0.112 benign 해석 →
G1269S Uncertain significance 0.077 benign 해석 →
G129R Uncertain significance 0.161 benign 해석 →
G1346S Uncertain significance 0.315 benign 해석 →
G1384S Uncertain significance 0.267 benign 해석 →
G138V Uncertain significance 0.086 benign 해석 →
G1415R Likely benign 0.271 benign ✓ 해석 →
G1424S Uncertain significance 0.234 benign 해석 →
G1425S Uncertain significance 0.371 ambiguous 해석 →
G1433S Uncertain significance 0.107 benign 해석 →
G1477D Uncertain significance 0.916 pathogenic 해석 →
G1477S Uncertain significance 0.147 benign 해석 →
G1483C Uncertain significance 0.994 pathogenic 해석 →
G1483S Uncertain significance 0.937 pathogenic 해석 →
G1525R Uncertain significance 0.633 pathogenic 해석 →
G1551R Uncertain significance 0.098 benign 해석 →
G1587S Uncertain significance 0.124 benign 해석 →
G1628S Uncertain significance 0.084 benign 해석 →
G1635E Uncertain significance 0.119 benign 해석 →
G1635R Uncertain significance 0.121 benign 해석 →
G1655A Uncertain significance 0.099 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.