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

TNC: AM vs ClinVar 일치도

442 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
64
⚠ CV=병원성 / AM=양성
4
⚠ CV=양성 / AM=병원성
2
— AM 미적재
372
AM ↔ ClinVar 비교 가능 변이 70건 중 64건 일치 / 6건 불일치 — 일치도 91.4%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A981T Conflicting classifications of pathogeni 0.214 benign 해석 →
P1064L Likely pathogenic 0.183 benign ⚠ 해석 →
Q1391R Likely pathogenic 0.073 benign ⚠ 해석 →
R108H Likely pathogenic 0.188 benign ⚠ 해석 →
T1796S Pathogenic 0.111 benign ⚠ 해석 →
V1773M Conflicting classifications of pathogeni 0.082 benign 해석 →
A1055T Uncertain significance 0.265 benign 해석 →
A1074V Uncertain significance 0.081 benign 해석 →
A1096T Benign 0.081 benign ✓ 해석 →
A1100V Uncertain significance 0.127 benign 해석 →
A115T Uncertain significance 0.104 benign 해석 →
A1187V Likely benign 0.136 benign ✓ 해석 →
A1207T Uncertain significance 0.080 benign 해석 →
A1271V Uncertain significance 0.130 benign 해석 →
A1373S Uncertain significance 0.092 benign 해석 →
A1401S Uncertain significance 0.086 benign 해석 →
A1410S Uncertain significance 0.076 benign 해석 →
A1704S Uncertain significance 0.191 benign 해석 →
A1781T Benign 0.221 benign ✓ 해석 →
A19T Uncertain significance 0.065 benign 해석 →
A2083V Uncertain significance 0.283 benign 해석 →
A2201S Uncertain significance 0.115 benign 해석 →
A39T Likely benign 0.070 benign ✓ 해석 →
A3S Uncertain significance 0.086 benign 해석 →
A528E Uncertain significance 0.163 benign 해석 →
A706T Uncertain significance 0.249 benign 해석 →
A706V Uncertain significance 0.410 ambiguous 해석 →
A78T Uncertain significance 0.071 benign 해석 →
A977V Uncertain significance 0.242 benign 해석 →
C140Y Uncertain significance 0.944 pathogenic 해석 →
C146R Uncertain significance 0.928 pathogenic 해석 →
C496S Uncertain significance 0.992 pathogenic 해석 →
C527S Uncertain significance 0.979 pathogenic 해석 →
C563G Uncertain significance 0.878 pathogenic 해석 →
C580R Uncertain significance 0.958 pathogenic 해석 →
D1098V Uncertain significance 0.264 benign 해석 →
D1258G Uncertain significance 0.077 benign 해석 →
D1462N Uncertain significance 0.079 benign 해석 →
D1539E Uncertain significance 0.343 ambiguous 해석 →
D156G Uncertain significance 0.224 benign 해석 →
D1634H Uncertain significance 0.452 ambiguous 해석 →
D1758N Uncertain significance 0.127 benign 해석 →
D1827V Uncertain significance 0.641 pathogenic 해석 →
D1827Y Uncertain significance 0.549 ambiguous 해석 →
D2059E Uncertain significance 0.263 benign 해석 →
D2078N Uncertain significance 0.490 ambiguous 해석 →
D2088N Uncertain significance 0.218 benign 해석 →
D209N Conflicting classifications of pathogeni 0.085 benign 해석 →
D2160V Uncertain significance 0.886 pathogenic 해석 →
D277N Uncertain significance 0.083 benign 해석 →
D321N Uncertain significance 0.259 benign 해석 →
D433N Benign 0.185 benign ✓ 해석 →
D504H Uncertain significance 0.462 ambiguous 해석 →
D520N Uncertain significance 0.087 benign 해석 →
D736G Benign 0.327 benign ✓ 해석 →
D816G Uncertain significance 0.542 ambiguous 해석 →
D831N Uncertain significance 0.135 benign 해석 →
D894N Uncertain significance 0.387 ambiguous 해석 →
D971N Uncertain significance 0.110 benign 해석 →
D990N Uncertain significance 0.121 benign 해석 →
E1048K Uncertain significance 0.135 benign 해석 →
E1115K Uncertain significance 0.128 benign 해석 →
E1175K Likely benign 0.070 benign ✓ 해석 →
E1297K Uncertain significance 0.068 benign 해석 →
E1329D Uncertain significance 0.186 benign 해석 →
E1341G Uncertain significance 0.162 benign 해석 →
E1466K Uncertain significance 0.099 benign 해석 →
E1466Q Uncertain significance 0.122 benign 해석 →
E1533Q Uncertain significance 0.163 benign 해석 →
E1574Q Uncertain significance 0.192 benign 해석 →
E1585D Uncertain significance 0.245 benign 해석 →
E170K Uncertain significance 0.173 benign 해석 →
E1723K Uncertain significance 0.287 benign 해석 →
E1836K Conflicting classifications of pathogeni 0.085 benign 해석 →
E1862K Uncertain significance 0.105 benign 해석 →
E189K Uncertain significance 0.156 benign 해석 →
E2008Q Benign 0.059 benign ✓ 해석 →
E2034K Uncertain significance 0.190 benign 해석 →
E2071K Uncertain significance 0.786 pathogenic 해석 →
E2176G Uncertain significance 0.932 pathogenic 해석 →
E21K Benign/Likely benign 0.094 benign ✓ 해석 →
E240K Uncertain significance 0.104 benign 해석 →
E333K Uncertain significance 0.175 benign 해석 →
E333Q Uncertain significance 0.189 benign 해석 →
E365A Uncertain significance 0.136 benign 해석 →
E451K Uncertain significance 0.076 benign 해석 →
E529Q Uncertain significance 0.141 benign 해석 →
E582K Uncertain significance 0.090 benign 해석 →
E661K Uncertain significance 0.090 benign 해석 →
E731A Uncertain significance 0.227 benign 해석 →
E731K Uncertain significance 0.349 ambiguous 해석 →
E743K Uncertain significance 0.695 pathogenic 해석 →
E780D Conflicting classifications of pathogeni 0.431 ambiguous 해석 →
E810Q Uncertain significance 0.182 benign 해석 →
E834G Uncertain significance 0.258 benign 해석 →
E855K Uncertain significance 0.174 benign 해석 →
E85K Uncertain significance 0.070 benign 해석 →
E870K Uncertain significance 0.213 benign 해석 →
E912Q Uncertain significance 0.261 benign 해석 →
E998D Uncertain significance 0.139 benign 해석 →
F1012S Uncertain significance 0.819 pathogenic 해석 →
F1242I Uncertain significance 0.129 benign 해석 →
F1556C Uncertain significance 0.974 pathogenic 해석 →
F320S Uncertain significance 0.369 ambiguous 해석 →
G1028R Uncertain significance 0.166 benign 해석 →
G1046V Uncertain significance 0.510 ambiguous 해석 →
G1086V Uncertain significance 0.166 benign 해석 →
G1163A Uncertain significance 0.136 benign 해석 →
G1215R Uncertain significance 0.477 ambiguous 해석 →
G1281A Uncertain significance 0.113 benign 해석 →
G1359D Likely benign 0.129 benign ✓ 해석 →
G145V Benign 0.175 benign ✓ 해석 →
G1497A Uncertain significance 0.155 benign 해석 →
G1567E Uncertain significance 0.911 pathogenic 해석 →
G163C Uncertain significance 0.757 pathogenic 해석 →
G163S Uncertain significance 0.115 benign 해석 →
G171R Likely benign 0.244 benign ✓ 해석 →
G171V Uncertain significance 0.135 benign 해석 →
G1759R Uncertain significance 0.496 ambiguous 해석 →
G1784D Uncertain significance 0.290 benign 해석 →
G1847R Uncertain significance 0.682 pathogenic 해석 →
G1872A Likely benign 0.280 benign ✓ 해석 →
G1872E Uncertain significance 0.240 benign 해석 →
G1996A Uncertain significance 0.346 ambiguous 해석 →
G203V Conflicting classifications of pathogeni 0.660 pathogenic 해석 →
G210S Benign/Likely benign 0.102 benign ✓ 해석 →
G2111D Uncertain significance 0.962 pathogenic 해석 →
G213S Benign 0.188 benign ✓ 해석 →
G229D Uncertain significance 0.988 pathogenic 해석 →
G261S Benign 0.654 pathogenic ⚠ 해석 →
G276D Uncertain significance 0.439 ambiguous 해석 →
G292R Uncertain significance 0.979 pathogenic 해석 →
G304S Uncertain significance 0.186 benign 해석 →
G335A Uncertain significance 0.387 ambiguous 해석 →
G400A Uncertain significance 0.261 benign 해석 →
G404W Uncertain significance 0.299 benign 해석 →
G428V Uncertain significance 0.329 benign 해석 →
G478S Uncertain significance 0.742 pathogenic 해석 →
G490S Uncertain significance 0.081 benign 해석 →
G493R Conflicting classifications of pathogeni 0.595 pathogenic 해석 →
G509C Uncertain significance 0.955 pathogenic 해석 →
G509D Uncertain significance 0.940 pathogenic 해석 →
G540R Uncertain significance 0.919 pathogenic 해석 →
G545V Conflicting classifications of pathogeni 0.904 pathogenic 해석 →
G571R Uncertain significance 0.941 pathogenic 해석 →
G576S Uncertain significance 0.201 benign 해석 →
G583S Uncertain significance 0.199 benign 해석 →
G617R Uncertain significance 0.313 benign 해석 →
G617V Uncertain significance 0.649 pathogenic 해석 →
G672R Uncertain significance 0.811 pathogenic 해석 →
G792C Conflicting classifications of pathogeni 0.972 pathogenic 해석 →
G838D Uncertain significance 0.562 ambiguous 해석 →
G838S Uncertain significance 0.151 benign 해석 →
G932A Uncertain significance 0.407 ambiguous 해석 →
G933E Uncertain significance 0.598 pathogenic 해석 →
G94E Uncertain significance 0.120 benign 해석 →
H1230D Uncertain significance 0.118 benign 해석 →
H1230R Uncertain significance 0.057 benign 해석 →
H1494R Conflicting classifications of pathogeni 0.073 benign 해석 →
H2079N Uncertain significance 0.063 benign 해석 →
H537R Uncertain significance 0.120 benign 해석 →
I1148V Uncertain significance 0.165 benign 해석 →
I1197V Likely benign 0.215 benign ✓ 해석 →
I1515V Conflicting classifications of pathogeni 0.087 benign 해석 →
I1677L Benign 0.259 benign ✓ 해석 →
I1747F Uncertain significance 0.107 benign 해석 →
I1970V Uncertain significance 0.084 benign 해석 →
I1974N Uncertain significance 0.278 benign 해석 →
I1974T Likely benign 0.078 benign ✓ 해석 →
I237L Uncertain significance 0.099 benign 해석 →
I237V Likely benign 0.067 benign ✓ 해석 →
I56V Uncertain significance 0.287 benign 해석 →
I757L Uncertain significance 0.375 ambiguous 해석 →
I781T Uncertain significance 0.960 pathogenic 해석 →
I874V Benign/Likely benign 0.093 benign ✓ 해석 →
K1437R Uncertain significance 0.081 benign 해석 →
K1871E Uncertain significance 0.395 ambiguous 해석 →
K1882T Uncertain significance 0.124 benign 해석 →
K2063E Uncertain significance 0.359 ambiguous 해석 →
K2096T Uncertain significance 0.408 ambiguous 해석 →
K281R Uncertain significance 0.092 benign 해석 →
K375M Uncertain significance 0.298 benign 해석 →
K627R Uncertain significance 0.102 benign 해석 →
K812E Uncertain significance 0.190 benign 해석 →
K969R Uncertain significance 0.110 benign 해석 →
K989N Uncertain significance 0.647 pathogenic 해석 →
L1247I Benign 0.092 benign ✓ 해석 →
L1252S Uncertain significance 0.100 benign 해석 →
L1350V Uncertain significance 0.222 benign 해석 →
L1456V Uncertain significance 0.095 benign 해석 →
L1478S Uncertain significance 0.134 benign 해석 →
L1508F Uncertain significance 0.306 benign 해석 →
L1577F Uncertain significance 0.268 benign 해석 →
L1626P Uncertain significance 0.992 pathogenic 해석 →
L1690F Uncertain significance 0.762 pathogenic 해석 →
L1769F Uncertain significance 0.550 ambiguous 해석 →
L1769R Uncertain significance 0.911 pathogenic 해석 →
L1905F Uncertain significance 0.492 ambiguous 해석 →
L2027M Uncertain significance 0.434 ambiguous 해석 →
L283P Uncertain significance 0.521 ambiguous 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.