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

TCHH: AM vs ClinVar 일치도

450 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
28
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
2
— AM 미적재
420
AM ↔ ClinVar 비교 가능 변이 30건 중 28건 일치 / 2건 불일치 — 일치도 93.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
Q331* Likely pathogenic — 미적재 해석 →
A43V Uncertain significance 0.282 benign 해석 →
A686G Benign 0.304 benign ✓ 해석 →
C103Y Uncertain significance 0.259 benign 해석 →
C1242W Uncertain significance 0.386 ambiguous 해석 →
D1255E Uncertain significance 0.320 benign 해석 →
D1260H Uncertain significance 0.361 ambiguous 해석 →
D1290H Uncertain significance 0.548 ambiguous 해석 →
D1413H Uncertain significance 0.587 pathogenic 해석 →
D1484E Uncertain significance 0.352 ambiguous 해석 →
D1500N Uncertain significance 0.397 ambiguous 해석 →
D1500Y Uncertain significance 0.611 pathogenic 해석 →
D1818H Uncertain significance 0.561 ambiguous 해석 →
D206N Uncertain significance 0.192 benign 해석 →
D479E Likely benign 0.178 benign ✓ 해석 →
D62V Uncertain significance 0.855 pathogenic 해석 →
D713G Uncertain significance 0.594 pathogenic 해석 →
D766N Uncertain significance 0.290 benign 해석 →
D854N Uncertain significance 0.180 benign 해석 →
E1009K Uncertain significance 0.370 ambiguous 해석 →
E1047G Uncertain significance 0.412 ambiguous 해석 →
E1053K Uncertain significance 0.167 benign 해석 →
E1060K Uncertain significance 0.182 benign 해석 →
E1115G Uncertain significance 0.298 benign 해석 →
E1115Q Uncertain significance 0.177 benign 해석 →
E1126K Uncertain significance 0.261 benign 해석 →
E1129Q Uncertain significance 0.247 benign 해석 →
E1135K Uncertain significance 0.483 ambiguous 해석 →
E1144K Uncertain significance 0.225 benign 해석 →
E1145G Uncertain significance 0.297 benign 해석 →
E1145K Uncertain significance 0.256 benign 해석 →
E1180Q Uncertain significance 0.250 benign 해석 →
E1204K Uncertain significance 0.266 benign 해석 →
E1280D Uncertain significance 0.327 benign 해석 →
E1297K Uncertain significance 0.242 benign 해석 →
E1303K Uncertain significance 0.202 benign 해석 →
E1306K Uncertain significance 0.341 ambiguous 해석 →
E130A Uncertain significance 0.242 benign 해석 →
E1317K Uncertain significance 0.349 ambiguous 해석 →
E1326G Uncertain significance 0.302 benign 해석 →
E132Q Uncertain significance 0.216 benign 해석 →
E1333K Uncertain significance 0.419 ambiguous 해석 →
E1365Q Uncertain significance 0.360 ambiguous 해석 →
E1366Q Uncertain significance 0.258 benign 해석 →
E1371K Uncertain significance 0.366 ambiguous 해석 →
E1378K Uncertain significance 0.338 benign 해석 →
E1378V Uncertain significance 0.537 ambiguous 해석 →
E1379K Uncertain significance 0.338 benign 해석 →
E1380G Uncertain significance 0.424 ambiguous 해석 →
E1380K Uncertain significance 0.414 ambiguous 해석 →
E1395K Uncertain significance 0.282 benign 해석 →
E143K Uncertain significance 0.312 benign 해석 →
E1443K Uncertain significance 0.403 ambiguous 해석 →
E1452D Uncertain significance 0.531 ambiguous 해석 →
E1452Q Uncertain significance 0.242 benign 해석 →
E1465G Uncertain significance 0.376 ambiguous 해석 →
E1490Q Uncertain significance 0.362 ambiguous 해석 →
E1498K Uncertain significance 0.538 ambiguous 해석 →
E1514D Likely benign 0.309 benign ✓ 해석 →
E1519Q Uncertain significance 0.190 benign 해석 →
E1536D Uncertain significance 0.550 ambiguous 해석 →
E1559Q Uncertain significance 0.226 benign 해석 →
E1560K Uncertain significance 0.364 ambiguous 해석 →
E1566D Uncertain significance 0.459 ambiguous 해석 →
E156A Uncertain significance 0.238 benign 해석 →
E1584D Uncertain significance 0.534 ambiguous 해석 →
E1585D Uncertain significance 0.496 ambiguous 해석 →
E1658K Uncertain significance 0.584 pathogenic 해석 →
E1658Q Uncertain significance 0.301 benign 해석 →
E1672K Uncertain significance 0.460 ambiguous 해석 →
E1673K Uncertain significance 0.413 ambiguous 해석 →
E1673Q Uncertain significance 0.243 benign 해석 →
E1697Q Benign 0.209 benign ✓ 해석 →
E1727D Uncertain significance 0.573 pathogenic 해석 →
E1728A Uncertain significance 0.343 ambiguous 해석 →
E1734D Uncertain significance 0.428 ambiguous 해석 →
E1776G Uncertain significance 0.378 ambiguous 해석 →
E1782D Uncertain significance 0.480 ambiguous 해석 →
E1800K Uncertain significance 0.425 ambiguous 해석 →
E1808K Uncertain significance 0.293 benign 해석 →
E1831K Likely benign 0.249 benign ✓ 해석 →
E1849G Uncertain significance 0.358 ambiguous 해석 →
E1867K Uncertain significance 0.207 benign 해석 →
E1869K Uncertain significance 0.407 ambiguous 해석 →
E1932G Uncertain significance 0.819 pathogenic 해석 →
E202K Uncertain significance 0.158 benign 해석 →
E207K Uncertain significance 0.144 benign 해석 →
E224A Uncertain significance 0.226 benign 해석 →
E232Q Uncertain significance 0.145 benign 해석 →
E243D Uncertain significance 0.316 benign 해석 →
E257G Uncertain significance 0.192 benign 해석 →
E258D Uncertain significance 0.297 benign 해석 →
E276A Uncertain significance 0.264 benign 해석 →
E276D Uncertain significance 0.322 benign 해석 →
E294Q Uncertain significance 0.184 benign 해석 →
E312Q Uncertain significance 0.221 benign 해석 →
E326D Uncertain significance 0.499 ambiguous 해석 →
E329K Uncertain significance 0.342 ambiguous 해석 →
E345Q Uncertain significance 0.325 benign 해석 →
E345V Uncertain significance 0.487 ambiguous 해석 →
E354K Uncertain significance 0.621 pathogenic 해석 →
E358K Uncertain significance 0.512 ambiguous 해석 →
E430G Uncertain significance 0.335 benign 해석 →
E430Q Benign 0.167 benign ✓ 해석 →
E439G Uncertain significance 0.369 ambiguous 해석 →
E444K Uncertain significance 0.368 ambiguous 해석 →
E468K Uncertain significance 0.256 benign 해석 →
E481K Uncertain significance 0.307 benign 해석 →
E482K Uncertain significance 0.185 benign 해석 →
E492G Uncertain significance 0.372 ambiguous 해석 →
E523D Uncertain significance 0.551 ambiguous 해석 →
E535K Uncertain significance 0.418 ambiguous 해석 →
E544D Uncertain significance 0.370 ambiguous 해석 →
E553K Uncertain significance 0.386 ambiguous 해석 →
E555K Uncertain significance 0.314 benign 해석 →
E564Q Uncertain significance 0.201 benign 해석 →
E570K Uncertain significance 0.432 ambiguous 해석 →
E573K Uncertain significance 0.261 benign 해석 →
E593K Uncertain significance 0.409 ambiguous 해석 →
E605V Uncertain significance 0.556 ambiguous 해석 →
E613Q Uncertain significance 0.185 benign 해석 →
E614K Uncertain significance 0.205 benign 해석 →
E617Q Uncertain significance 0.140 benign 해석 →
E626G Uncertain significance 0.268 benign 해석 →
E626Q Uncertain significance 0.208 benign 해석 →
E638K Uncertain significance 0.285 benign 해석 →
E650K Likely benign 0.299 benign ✓ 해석 →
E662K Likely benign 0.229 benign ✓ 해석 →
E662Q Uncertain significance 0.170 benign 해석 →
E663D Uncertain significance 0.487 ambiguous 해석 →
E669D Uncertain significance 0.521 ambiguous 해석 →
E677G Uncertain significance 0.333 benign 해석 →
E684D Uncertain significance 0.432 ambiguous 해석 →
E743D Uncertain significance 0.357 ambiguous 해석 →
E745G Uncertain significance 0.439 ambiguous 해석 →
E751A Uncertain significance 0.237 benign 해석 →
E751K Uncertain significance 0.198 benign 해석 →
E801K Uncertain significance 0.223 benign 해석 →
E802A Uncertain significance 0.313 benign 해석 →
E802D Uncertain significance 0.420 ambiguous 해석 →
E802K Uncertain significance 0.322 benign 해석 →
E816D Uncertain significance 0.352 ambiguous 해석 →
E816K Uncertain significance 0.205 benign 해석 →
E828K Uncertain significance 0.317 benign 해석 →
E838G Uncertain significance 0.259 benign 해석 →
E838Q Uncertain significance 0.195 benign 해석 →
E867G Uncertain significance 0.348 ambiguous 해석 →
E881K Uncertain significance 0.529 ambiguous 해석 →
E912D Conflicting classifications of pathogeni 0.246 benign 해석 →
E932Q Uncertain significance 0.233 benign 해석 →
E949K Uncertain significance 0.433 ambiguous 해석 →
E955Q Uncertain significance 0.270 benign 해석 →
E97K Uncertain significance 0.178 benign 해석 →
E995K Uncertain significance 0.161 benign 해석 →
F1250Y Uncertain significance 0.139 benign 해석 →
F1463S Uncertain significance 0.700 pathogenic 해석 →
F1557V Uncertain significance 0.421 ambiguous 해석 →
G105R Uncertain significance 0.226 benign 해석 →
G1609S Uncertain significance 0.233 benign 해석 →
G1819R Likely benign 0.205 benign ✓ 해석 →
G1899R Likely benign 0.250 benign ✓ 해석 →
G1916S Uncertain significance 0.159 benign 해석 →
G198A Uncertain significance 0.178 benign 해석 →
G855D Uncertain significance 0.181 benign 해석 →
H1525P Uncertain significance 0.390 ambiguous 해석 →
H1884Q Likely benign 0.330 benign ✓ 해석 →
H1895Q Uncertain significance 0.264 benign 해석 →
H1918Y Uncertain significance 0.177 benign 해석 →
H434R Likely benign 0.123 benign ✓ 해석 →
H676Q Uncertain significance 0.170 benign 해석 →
H676R Uncertain significance 0.123 benign 해석 →
I1749T Uncertain significance 0.854 pathogenic 해석 →
I57T Uncertain significance 0.913 pathogenic 해석 →
I57V Uncertain significance 0.396 ambiguous 해석 →
K1190T Uncertain significance 0.505 ambiguous 해석 →
K1748N Uncertain significance 0.736 pathogenic 해석 →
K1879T Uncertain significance 0.479 ambiguous 해석 →
K248R Uncertain significance 0.154 benign 해석 →
K255Q Likely benign 0.213 benign ✓ 해석 →
K280R Likely benign 0.146 benign ✓ 해석 →
K603R Likely benign 0.148 benign ✓ 해석 →
K725T Uncertain significance 0.653 pathogenic 해석 →
K988R Likely benign 0.153 benign ✓ 해석 →
K989Q Likely benign 0.253 benign ✓ 해석 →
L110S Uncertain significance 0.442 ambiguous 해석 →
L1136R Likely benign 0.092 benign ✓ 해석 →
L1166R Likely benign 0.116 benign ✓ 해석 →
L1183P Uncertain significance 0.719 pathogenic 해석 →
L1223V Uncertain significance 0.174 benign 해석 →
L1253S Uncertain significance 0.445 ambiguous 해석 →
L1299R Uncertain significance 0.101 benign 해석 →
L129P Uncertain significance 0.167 benign 해석 →
L1377V Uncertain significance 0.167 benign 해석 →
L1449P Uncertain significance 0.507 ambiguous 해석 →
L148V Uncertain significance 0.131 benign 해석 →
L1613R Uncertain significance 0.131 benign 해석 →
L1627M Uncertain significance 0.288 benign 해석 →
L1636V Uncertain significance 0.184 benign 해석 →
L1646V Uncertain significance 0.208 benign 해석 →
L1684P Uncertain significance 0.769 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.