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

CREBBP: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
119
✓ 둘 다 양성
39
⚠ CV=병원성 / AM=양성
4
⚠ CV=양성 / AM=병원성
8
— AM 미적재
330
AM ↔ ClinVar 비교 가능 변이 170건 중 158건 일치 / 12건 불일치 — 일치도 92.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1164P Likely pathogenic 0.998 pathogenic ✓ 해석 →
A1395D Likely pathogenic 0.999 pathogenic ✓ 해석 →
A1473T Likely pathogenic 0.994 pathogenic ✓ 해석 →
A1782T Likely pathogenic 0.998 pathogenic ✓ 해석 →
A1782V Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
A1788T Likely pathogenic 0.984 pathogenic ✓ 해석 →
A1870P Likely pathogenic 0.997 pathogenic ✓ 해석 →
A644P Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1240Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1294W Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1408F Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1421F Likely pathogenic 0.977 pathogenic ✓ 해석 →
C1707S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1710R Pathogenic 1.000 pathogenic ✓ 해석 →
C1710S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1710Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1720R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1720Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1723F Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1723W Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1729R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1729S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1729Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1775R Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C1783F Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1790R Pathogenic 1.000 pathogenic ✓ 해석 →
C1838Y Pathogenic 1.000 pathogenic ✓ 해석 →
C367F Likely pathogenic 1.000 pathogenic ✓ 해석 →
C845* Pathogenic — 미적재 해석 →
D1406Y Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
D1435E Likely pathogenic 0.999 pathogenic ✓ 해석 →
D1435Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
D1480G Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
D1481G Likely pathogenic 0.999 pathogenic ✓ 해석 →
D1701G Likely pathogenic 0.988 pathogenic ✓ 해석 →
D1725E Likely pathogenic 0.989 pathogenic ✓ 해석 →
E1020* Pathogenic — 미적재 해석 →
E1205* Pathogenic — 미적재 해석 →
E1278K Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
E1278Q Likely pathogenic 0.949 pathogenic ✓ 해석 →
E1459G Likely pathogenic 0.948 pathogenic ✓ 해석 →
E1555* Pathogenic — 미적재 해석 →
E1724K Pathogenic 0.992 pathogenic ✓ 해석 →
E594* Likely pathogenic — 미적재 해석 →
F1409S Likely pathogenic 0.999 pathogenic ✓ 해석 →
F1632V Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
G126* Pathogenic — 미적재 해석 →
G1465E Pathogenic 0.998 pathogenic ✓ 해석 →
G1465R Pathogenic 0.997 pathogenic ✓ 해석 →
G1465R Pathogenic 0.997 pathogenic ✓ 해석 →
G1746V Likely pathogenic 0.998 pathogenic ✓ 해석 →
G268* Pathogenic — 미적재 해석 →
G333* Pathogenic — 미적재 해석 →
G8* Pathogenic — 미적재 해석 →
H1470P Pathogenic 0.999 pathogenic ✓ 해석 →
H1470R Pathogenic 0.992 pathogenic ✓ 해석 →
H1487P Likely pathogenic 0.985 pathogenic ✓ 해석 →
H1487R Likely pathogenic 0.999 pathogenic ✓ 해석 →
H1487Y Uncertain significance 0.990 pathogenic 해석 →
H1740N Likely pathogenic 0.993 pathogenic ✓ 해석 →
H1740R Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
H1804Q Likely pathogenic 1.000 pathogenic ✓ 해석 →
H1857P Likely pathogenic 0.987 pathogenic ✓ 해석 →
H365P Likely pathogenic 0.999 pathogenic ✓ 해석 →
I1453T Likely pathogenic 0.993 pathogenic ✓ 해석 →
I1730V Likely benign 0.082 benign ✓ 해석 →
I1772N Likely pathogenic 1.000 pathogenic ✓ 해석 →
I82* Pathogenic — 미적재 해석 →
K1033* Pathogenic — 미적재 해석 →
K1314* Likely pathogenic — 미적재 해석 →
K13E Likely pathogenic 0.835 pathogenic ✓ 해석 →
K1492E Likely pathogenic 0.998 pathogenic ✓ 해석 →
K1520R Pathogenic 0.355 ambiguous 해석 →
K1554* Pathogenic — 미적재 해석 →
K2091* Pathogenic — 미적재 해석 →
K434I Likely pathogenic 0.998 pathogenic ✓ 해석 →
L1142P Pathogenic 1.000 pathogenic ✓ 해석 →
L1464* Likely pathogenic — 미적재 해석 →
L1499V Pathogenic 0.985 pathogenic ✓ 해석 →
L1507P Likely pathogenic 1.000 pathogenic ✓ 해석 →
L1681S Conflicting classifications of pathogeni 0.989 pathogenic 해석 →
L1747R Likely pathogenic 0.996 pathogenic ✓ 해석 →
L1779P Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
L2330F Likely pathogenic 0.160 benign ⚠ 해석 →
L608P Likely pathogenic 1.000 pathogenic ✓ 해석 →
M1385K Likely pathogenic 0.986 pathogenic ✓ 해석 →
M1742V Likely pathogenic 0.974 pathogenic ✓ 해석 →
M1872T Pathogenic/Likely pathogenic 0.889 pathogenic ✓ 해석 →
M1872V Pathogenic/Likely pathogenic 0.224 benign ⚠ 해석 →
M1I Pathogenic 0.896 pathogenic ✓ 해석 →
M1K Pathogenic 0.928 pathogenic ✓ 해석 →
N1248I Likely pathogenic 0.445 ambiguous 해석 →
N1589K Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
N1787K Pathogenic 0.999 pathogenic ✓ 해석 →
N1789K Likely pathogenic 0.999 pathogenic ✓ 해석 →
N1789S Conflicting classifications of pathogeni 0.734 pathogenic 해석 →
N1789T Likely pathogenic 0.965 pathogenic ✓ 해석 →
N1813K Pathogenic 0.997 pathogenic ✓ 해석 →
P1494R Likely pathogenic 0.999 pathogenic ✓ 해석 →
P1494S Pathogenic 0.998 pathogenic ✓ 해석 →
P1538L Likely pathogenic 0.901 pathogenic ✓ 해석 →
P229S Conflicting classifications of pathogeni 0.061 benign 해석 →
P287G Likely pathogenic 0.123 benign ⚠ 해석 →
Q106* Pathogenic — 미적재 해석 →
Q1079* Pathogenic — 미적재 해석 →
Q1104* Pathogenic — 미적재 해석 →
Q1113* Pathogenic — 미적재 해석 →
Q1146* Pathogenic — 미적재 해석 →
Q1209* Pathogenic — 미적재 해석 →
Q1217* Pathogenic — 미적재 해석 →
Q1349* Pathogenic — 미적재 해석 →
Q136* Pathogenic — 미적재 해석 →
Q1415* Pathogenic — 미적재 해석 →
Q1491* Pathogenic — 미적재 해석 →
Q1491K Likely pathogenic 0.969 pathogenic ✓ 해석 →
Q1558* Pathogenic — 미적재 해석 →
Q158* Pathogenic — 미적재 해석 →
Q170* Pathogenic — 미적재 해석 →
Q1853P Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
Q1854P Likely pathogenic 0.990 pathogenic ✓ 해석 →
Q1880* Pathogenic — 미적재 해석 →
Q1895* Pathogenic — 미적재 해석 →
Q1904* Pathogenic — 미적재 해석 →
Q1928* Pathogenic — 미적재 해석 →
Q1941* Pathogenic/Likely pathogenic — 미적재 해석 →
Q1968* Pathogenic — 미적재 해석 →
Q1969* Pathogenic — 미적재 해석 →
Q1994* Pathogenic — 미적재 해석 →
Q200* Pathogenic — 미적재 해석 →
Q2030* Pathogenic/Likely pathogenic — 미적재 해석 →
Q2045* Pathogenic — 미적재 해석 →
Q205* Pathogenic — 미적재 해석 →
Q2057* Likely pathogenic — 미적재 해석 →
Q2081* Pathogenic/Likely pathogenic — 미적재 해석 →
Q2082* Pathogenic — 미적재 해석 →
Q2084* Likely pathogenic — 미적재 해석 →
Q2103* Pathogenic — 미적재 해석 →
Q2130* Likely pathogenic — 미적재 해석 →
Q2146* Pathogenic — 미적재 해석 →
Q245* Pathogenic — 미적재 해석 →
Q301* Pathogenic — 미적재 해석 →
Q355* Pathogenic — 미적재 해석 →
Q357* Pathogenic — 미적재 해석 →
Q443* Pathogenic — 미적재 해석 →
Q454* Pathogenic — 미적재 해석 →
Q495* Pathogenic — 미적재 해석 →
Q517* Pathogenic — 미적재 해석 →
Q540* Pathogenic — 미적재 해석 →
Q691* Pathogenic — 미적재 해석 →
Q699* Likely pathogenic — 미적재 해석 →
Q752* Pathogenic — 미적재 해석 →
Q792* Pathogenic — 미적재 해석 →
Q881* Pathogenic — 미적재 해석 →
Q887* Pathogenic — 미적재 해석 →
Q897* Likely pathogenic — 미적재 해석 →
Q919* Pathogenic — 미적재 해석 →
Q925* Pathogenic — 미적재 해석 →
Q931* Pathogenic — 미적재 해석 →
Q935* Pathogenic — 미적재 해석 →
Q946* Pathogenic — 미적재 해석 →
Q96* Pathogenic — 미적재 해석 →
R1103* Pathogenic — 미적재 해석 →
R1173* Pathogenic — 미적재 해석 →
R1233K Pathogenic/Likely pathogenic 0.936 pathogenic ✓ 해석 →
R1319* Pathogenic — 미적재 해석 →
R1341* Pathogenic — 미적재 해석 →
R1341P Likely pathogenic 1.000 pathogenic ✓ 해석 →
R1347P Likely pathogenic 0.994 pathogenic ✓ 해석 →
R1360* Pathogenic — 미적재 해석 →
R1378P Likely pathogenic 0.996 pathogenic ✓ 해석 →
R1378Q Pathogenic 0.735 pathogenic ✓ 해석 →
R1392* Pathogenic — 미적재 해석 →
R1392L Likely pathogenic 0.977 pathogenic ✓ 해석 →
R1427S Likely pathogenic 0.999 pathogenic ✓ 해석 →
R1428P Likely pathogenic 1.000 pathogenic ✓ 해석 →
R1446C Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
R1446H Likely pathogenic 0.995 pathogenic ✓ 해석 →
R1446P Likely pathogenic 0.999 pathogenic ✓ 해석 →
R1498* Pathogenic — 미적재 해석 →
R1498Q Likely pathogenic 0.996 pathogenic ✓ 해석 →
R1664H Likely pathogenic 0.998 pathogenic ✓ 해석 →
R1664L Likely pathogenic 0.999 pathogenic ✓ 해석 →
R1672* Pathogenic — 미적재 해석 →
R1774H Pathogenic 0.988 pathogenic ✓ 해석 →
R1786C Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R1786G Likely pathogenic 0.999 pathogenic ✓ 해석 →
R1786H Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
R1786P Likely pathogenic 0.999 pathogenic ✓ 해석 →
R1851C Conflicting classifications of pathogeni 0.848 pathogenic 해석 →
R1867L Pathogenic 0.993 pathogenic ✓ 해석 →
R1867Q Pathogenic/Likely pathogenic 0.954 pathogenic ✓ 해석 →
R1867W Pathogenic/Likely pathogenic 0.991 pathogenic ✓ 해석 →
R1868Q Pathogenic/Likely pathogenic 0.971 pathogenic ✓ 해석 →
R1868W Pathogenic 0.993 pathogenic ✓ 해석 →
R2004* Pathogenic — 미적재 해석 →
R2104C Likely pathogenic 0.998 pathogenic ✓ 해석 →
R370* Pathogenic — 미적재 해석 →
R386* Pathogenic — 미적재 해석 →
R413* Pathogenic — 미적재 해석 →
R424* Pathogenic — 미적재 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.