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

F5: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
13
✓ 둘 다 양성
35
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
2
— AM 미적재
449
AM ↔ ClinVar 비교 가능 변이 51건 중 48건 일치 / 3건 불일치 — 일치도 94.1%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1569* Pathogenic — 미적재 해석 →
A540V Likely pathogenic 0.596 pathogenic ✓ 해석 →
C2061Y Likely pathogenic 0.931 pathogenic ✓ 해석 →
C329* Pathogenic — 미적재 해석 →
C500G Conflicting classifications of pathogeni 0.971 pathogenic 해석 →
D96H Pathogenic 0.906 pathogenic ✓ 해석 →
E1178* Pathogenic — 미적재 해석 →
E1216* Pathogenic — 미적재 해석 →
E147* Pathogenic — 미적재 해석 →
E1696* Pathogenic — 미적재 해석 →
E1798K Pathogenic 0.094 benign ⚠ 해석 →
E1890K Uncertain significance 0.126 benign 해석 →
E908* Likely pathogenic — 미적재 해석 →
F218S Pathogenic 0.928 pathogenic ✓ 해석 →
G2060D Conflicting classifications of pathogeni 0.869 pathogenic 해석 →
G2220C Likely pathogenic 0.926 pathogenic ✓ 해석 →
G304E Conflicting classifications of pathogeni 0.452 ambiguous 해석 →
G420C Pathogenic 0.966 pathogenic ✓ 해석 →
G449* Pathogenic — 미적재 해석 →
H1803R Conflicting classifications of pathogeni 0.185 benign 해석 →
I387T Pathogenic 0.458 ambiguous 해석 →
K327* Pathogenic — 미적재 해석 →
L1939* Likely pathogenic — 미적재 해석 →
M2016I Pathogenic 0.534 ambiguous 해석 →
Q1399* Likely pathogenic — 미적재 해석 →
Q1489* Pathogenic — 미적재 해석 →
Q2031* Pathogenic — 미적재 해석 →
Q2121* Likely pathogenic — 미적재 해석 →
Q537* Pathogenic — 미적재 해석 →
Q801* Pathogenic — 미적재 해석 →
Q841* Pathogenic — 미적재 해석 →
R1030* Pathogenic — 미적재 해석 →
R1161* Pathogenic — 미적재 해석 →
R146* Pathogenic/Likely pathogenic — 미적재 해석 →
R1621* Pathogenic/Likely pathogenic — 미적재 해석 →
R1634* Pathogenic/Likely pathogenic — 미적재 해석 →
R1715* Pathogenic — 미적재 해석 →
R1789* Pathogenic — 미적재 해석 →
R2102C Likely pathogenic 0.607 pathogenic ✓ 해석 →
R2102H Pathogenic 0.630 pathogenic ✓ 해석 →
R2202C Pathogenic 0.653 pathogenic ✓ 해석 →
R334G Conflicting classifications of pathogeni 0.335 benign 해석 →
R334T Conflicting classifications of pathogeni 0.427 ambiguous 해석 →
R441C Conflicting classifications of pathogeni 0.361 ambiguous 해석 →
R534* Pathogenic — 미적재 해석 →
R534Q drug response 0.205 benign 해석 →
R740* Pathogenic/Likely pathogenic — 미적재 해석 →
S52* Pathogenic — 미적재 해석 →
S743* Pathogenic — 미적재 해석 →
V1841M Pathogenic 0.353 ambiguous 해석 →
W1882* Pathogenic — 미적재 해석 →
W1962* Likely pathogenic — 미적재 해석 →
W557C Likely pathogenic 0.990 pathogenic ✓ 해석 →
W982* Pathogenic — 미적재 해석 →
Y119* Pathogenic — 미적재 해석 →
Y1730C Pathogenic/Likely pathogenic 0.826 pathogenic ✓ 해석 →
Y1931* Pathogenic — 미적재 해석 →
Y232* Likely pathogenic — 미적재 해석 →
Y558* Likely pathogenic — 미적재 해석 →
Y558C Likely pathogenic 0.891 pathogenic ✓ 해석 →
Y558S Likely pathogenic 0.917 pathogenic ✓ 해석 →
Y693* Likely pathogenic — 미적재 해석 →
A1111T Likely benign 0.056 benign ✓ 해석 →
A1225D Likely benign 0.076 benign ✓ 해석 →
A135V Likely benign 0.063 benign ✓ 해석 →
A135V Likely benign 0.063 benign ✓ 해석 →
A143P Uncertain significance 0.128 benign 해석 →
A143T Uncertain significance 0.119 benign 해석 →
A1568S Uncertain significance 0.220 benign 해석 →
A1650V Uncertain significance 0.665 pathogenic 해석 →
A1672T Uncertain significance 0.271 benign 해석 →
A1955S Uncertain significance 0.073 benign 해석 →
A1955V Uncertain significance 0.088 benign 해석 →
A2038T Uncertain significance 0.358 ambiguous 해석 →
A2111V Uncertain significance 0.926 pathogenic 해석 →
A2135V Uncertain significance 0.706 pathogenic 해석 →
A249V Uncertain significance 0.194 benign 해석 →
A296T Uncertain significance 0.234 benign 해석 →
A369V Conflicting classifications of pathogeni 0.114 benign 해석 →
A37P Uncertain significance 0.975 pathogenic 해석 →
A38S Likely benign 0.268 benign ✓ 해석 →
A38T Uncertain significance 0.538 ambiguous 해석 →
A516S Uncertain significance 0.133 benign 해석 →
A516T Uncertain significance 0.443 ambiguous 해석 →
A705G Uncertain significance 0.117 benign 해석 →
A792G Uncertain significance 0.117 benign 해석 →
A967T Uncertain significance 0.079 benign 해석 →
C2141Y Uncertain significance 0.922 pathogenic 해석 →
C2221Y Uncertain significance 0.930 pathogenic 해석 →
C329F Uncertain significance 0.792 pathogenic 해석 →
C329Y Uncertain significance 0.851 pathogenic 해석 →
C567Y Uncertain significance 0.949 pathogenic 해석 →
D107H Benign/Likely benign 0.157 benign ✓ 해석 →
D1090G Uncertain significance 0.095 benign 해석 →
D1134E Conflicting classifications of pathogeni 0.169 benign 해석 →
D1243H Uncertain significance 0.159 benign 해석 →
D1324Y Uncertain significance 0.132 benign 해석 →
D1369E Uncertain significance 0.135 benign 해석 →
D140E Uncertain significance 0.836 pathogenic 해석 →
D1419H Uncertain significance 0.110 benign 해석 →
D1459V Uncertain significance 0.139 benign 해석 →
D1461G Uncertain significance 0.091 benign 해석 →
D157G Uncertain significance 0.351 ambiguous 해석 →
D1605H Conflicting classifications of pathogeni 0.153 benign 해석 →
D1607H Uncertain significance 0.130 benign 해석 →
D1612V Conflicting classifications of pathogeni 0.177 benign 해석 →
D1632E Uncertain significance 0.428 ambiguous 해석 →
D163H Uncertain significance 0.176 benign 해석 →
D164Y Uncertain significance 0.772 pathogenic 해석 →
D1739G Uncertain significance 0.868 pathogenic 해석 →
D1739N Uncertain significance 0.773 pathogenic 해석 →
D181Y Uncertain significance 0.928 pathogenic 해석 →
D1906A Uncertain significance 0.146 benign 해석 →
D208G Uncertain significance 0.245 benign 해석 →
D208H Uncertain significance 0.349 ambiguous 해석 →
D2222G Benign/Likely benign 0.353 ambiguous 해석 →
D429E Uncertain significance 0.968 pathogenic 해석 →
D457H Uncertain significance 0.235 benign 해석 →
D457V Uncertain significance 0.179 benign 해석 →
D571V Uncertain significance 0.215 benign 해석 →
D576G Uncertain significance 0.202 benign 해석 →
D656E Uncertain significance 0.685 pathogenic 해석 →
D681G Uncertain significance 0.847 pathogenic 해석 →
D909E Uncertain significance 0.166 benign 해석 →
D961Y Uncertain significance 0.145 benign 해석 →
D965N Uncertain significance 0.084 benign 해석 →
E1054D Conflicting classifications of pathogeni 0.127 benign 해석 →
E1152A Uncertain significance 0.108 benign 해석 →
E1158V Uncertain significance 0.127 benign 해석 →
E1261Q Uncertain significance 0.125 benign 해석 →
E1530A Conflicting classifications of pathogeni 0.107 benign 해석 →
E1687G Uncertain significance 0.260 benign 해석 →
E1687K Uncertain significance 0.194 benign 해석 →
E1719G Uncertain significance 0.165 benign 해석 →
E1778Q Uncertain significance 0.698 pathogenic 해석 →
E180A Uncertain significance 0.148 benign 해석 →
E180K Uncertain significance 0.080 benign 해석 →
E1927G Uncertain significance 0.177 benign 해석 →
E1951G Uncertain significance 0.232 benign 해석 →
E2029D Uncertain significance 0.132 benign 해석 →
E2078A Uncertain significance 0.171 benign 해석 →
E2147G Uncertain significance 0.606 pathogenic 해석 →
E2179A Uncertain significance 0.183 benign 해석 →
E220D Uncertain significance 0.853 pathogenic 해석 →
E277D Uncertain significance 0.454 ambiguous 해석 →
E277Q Uncertain significance 0.171 benign 해석 →
E48Q Uncertain significance 0.102 benign 해석 →
E700G Uncertain significance 0.080 benign 해석 →
E749D Uncertain significance 0.082 benign 해석 →
E826Q Uncertain significance 0.111 benign 해석 →
F1289L Uncertain significance 0.152 benign 해석 →
F1334L Conflicting classifications of pathogeni 0.198 benign 해석 →
F133L Uncertain significance 0.538 ambiguous 해석 →
F1507L Uncertain significance 0.483 ambiguous 해석 →
F1507Y Uncertain significance 0.092 benign 해석 →
F1869C Uncertain significance 0.736 pathogenic 해석 →
F1993L Uncertain significance 0.990 pathogenic 해석 →
F2007Y Uncertain significance 0.420 ambiguous 해석 →
F2087L Uncertain significance 0.891 pathogenic 해석 →
F218L Uncertain significance 0.976 pathogenic 해석 →
F267L Uncertain significance 0.970 pathogenic 해석 →
F383L Uncertain significance 0.958 pathogenic 해석 →
F548I Uncertain significance 0.723 pathogenic 해석 →
F604V Uncertain significance 0.474 ambiguous 해석 →
F679L Conflicting classifications of pathogeni 0.983 pathogenic 해석 →
F739L Uncertain significance 0.484 ambiguous 해석 →
G1109S Likely benign 0.065 benign ✓ 해석 →
G1227S Conflicting classifications of pathogeni 0.070 benign 해석 →
G125D Uncertain significance 0.905 pathogenic 해석 →
G1272C Uncertain significance 0.148 benign 해석 →
G1317D Uncertain significance 0.090 benign 해석 →
G1317S Conflicting classifications of pathogeni 0.072 benign 해석 →
G1353S Likely benign 0.075 benign ✓ 해석 →
G1425S Uncertain significance 0.066 benign 해석 →
G145D Uncertain significance 0.270 benign 해석 →
G15S Benign/Likely benign 0.112 benign ✓ 해석 →
G1642R Uncertain significance 0.916 pathogenic 해석 →
G1722D Uncertain significance 0.314 benign 해석 →
G1754R Uncertain significance 0.695 pathogenic 해석 →
G1846S Uncertain significance 0.377 ambiguous 해석 →
G1853V Benign/Likely benign 0.204 benign ✓ 해석 →
G1889R Uncertain significance 0.587 pathogenic 해석 →
G1942A Uncertain significance 0.080 benign 해석 →
G1975R Conflicting classifications of pathogeni 0.742 pathogenic 해석 →
G2009W Uncertain significance 0.947 pathogenic 해석 →
G2071D Uncertain significance 0.826 pathogenic 해석 →
G2075V Uncertain significance 0.526 ambiguous 해석 →
G2140D Uncertain significance 0.967 pathogenic 해석 →
G2220R Uncertain significance 0.966 pathogenic 해석 →
G304R Uncertain significance 0.587 pathogenic 해석 →
G478A Uncertain significance 0.419 ambiguous 해석 →
G591A Uncertain significance 0.765 pathogenic 해석 →
G659R Uncertain significance 0.980 pathogenic 해석 →
G774A Uncertain significance 0.100 benign 해석 →
G815D Uncertain significance 0.106 benign 해석 →
G853S Uncertain significance 0.102 benign 해석 →
G855R Uncertain significance 0.081 benign 해석 →
G867V Uncertain significance 0.085 benign 해석 →
G87R Uncertain significance 0.974 pathogenic 해석 →
G903R Uncertain significance 0.104 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.