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

ATRX: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
68
✓ 둘 다 양성
86
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
7
— AM 미적재
337
AM ↔ ClinVar 비교 가능 변이 163건 중 154건 일치 / 9건 불일치 — 일치도 94.5%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1622V Conflicting classifications of pathogeni 0.859 pathogenic 해석 →
A173T Pathogenic 0.955 pathogenic ✓ 해석 →
A1790T Likely pathogenic 0.904 pathogenic ✓ 해석 →
A224V Conflicting classifications of pathogeni 0.980 pathogenic 해석 →
C1614R Pathogenic 0.960 pathogenic ✓ 해석 →
C200F Pathogenic 1.000 pathogenic ✓ 해석 →
C220Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C223R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C223Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C243R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C243W Likely pathogenic 1.000 pathogenic ✓ 해석 →
C243Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C280Y Likely pathogenic 0.995 pathogenic ✓ 해석 →
D1615E Likely pathogenic 0.074 benign ⚠ 해석 →
D2035G Likely pathogenic 0.971 pathogenic ✓ 해석 →
D2035V Pathogenic 0.979 pathogenic ✓ 해석 →
D2136N Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
D2383H Likely pathogenic 0.918 pathogenic ✓ 해석 →
D848Y Likely pathogenic 0.129 benign ⚠ 해석 →
E1757D Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
E2265K Likely pathogenic 0.949 pathogenic ✓ 해석 →
E2366* Likely pathogenic — 미적재 해석 →
E2381* Pathogenic — 미적재 해석 →
E2388* Pathogenic — 미적재 해석 →
E585* Pathogenic/Likely pathogenic — 미적재 해석 →
F1780Y Likely pathogenic 0.982 pathogenic ✓ 해석 →
G1474* Pathogenic — 미적재 해석 →
G1676C Likely pathogenic 0.967 pathogenic ✓ 해석 →
H1609R Likely pathogenic 0.991 pathogenic ✓ 해석 →
H1609Y Likely pathogenic 0.911 pathogenic ✓ 해석 →
H1759N Likely pathogenic 0.997 pathogenic ✓ 해석 →
H189Q Pathogenic 0.998 pathogenic ✓ 해석 →
H189Y Likely pathogenic 0.987 pathogenic ✓ 해석 →
I1680T Pathogenic 0.997 pathogenic ✓ 해석 →
I1765M Likely pathogenic 0.963 pathogenic ✓ 해석 →
I1781T Likely pathogenic 0.987 pathogenic ✓ 해석 →
I1784V Likely pathogenic 0.808 pathogenic ✓ 해석 →
I2050T Conflicting classifications of pathogeni 0.957 pathogenic 해석 →
I2248T Likely pathogenic 0.985 pathogenic ✓ 해석 →
K1004* Likely pathogenic — 미적재 해석 →
K1357* Pathogenic — 미적재 해석 →
K1650N Pathogenic 0.558 ambiguous 해석 →
K1802T Likely pathogenic 0.990 pathogenic ✓ 해석 →
K251E Pathogenic 0.930 pathogenic ✓ 해석 →
L1645S Likely pathogenic 0.943 pathogenic ✓ 해석 →
L1656S Likely pathogenic 1.000 pathogenic ✓ 해석 →
L229F Likely pathogenic 0.998 pathogenic ✓ 해석 →
L253S Likely pathogenic 0.999 pathogenic ✓ 해석 →
L409S Pathogenic 0.771 pathogenic ✓ 해석 →
L904* Pathogenic — 미적재 해석 →
M1761V Likely pathogenic 0.983 pathogenic ✓ 해석 →
N1694D Likely pathogenic 0.994 pathogenic ✓ 해석 →
N179S Pathogenic/Likely pathogenic 0.921 pathogenic ✓ 해석 →
N1860S Benign/Likely benign 0.042 benign ✓ 해석 →
N247S Likely pathogenic 0.950 pathogenic ✓ 해석 →
P1711S Pathogenic 0.996 pathogenic ✓ 해석 →
P190A Likely pathogenic 0.897 pathogenic ✓ 해석 →
P190L Likely pathogenic 0.916 pathogenic ✓ 해석 →
P270L Pathogenic 0.873 pathogenic ✓ 해석 →
P270R Likely pathogenic 0.725 pathogenic ✓ 해석 →
Q1691P Likely pathogenic 0.998 pathogenic ✓ 해석 →
Q2398* Likely pathogenic — 미적재 해석 →
R1022* Pathogenic/Likely pathogenic — 미적재 해석 →
R1503S Likely pathogenic 0.999 pathogenic ✓ 해석 →
R1504* Pathogenic — 미적재 해석 →
R1661C Likely pathogenic 0.981 pathogenic ✓ 해석 →
R1739* Likely pathogenic — 미적재 해석 →
R1741K Conflicting classifications of pathogeni 0.277 benign 해석 →
R1742K Pathogenic 0.932 pathogenic ✓ 해석 →
R2079* Pathogenic — 미적재 해석 →
R2085C Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
R2085H Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
R2085L Likely pathogenic 0.999 pathogenic ✓ 해석 →
R2111* Pathogenic — 미적재 해석 →
R2131Q Pathogenic/Likely pathogenic 0.979 pathogenic ✓ 해석 →
R2178W Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R2188* Likely pathogenic — 미적재 해석 →
R2271G Pathogenic 0.998 pathogenic ✓ 해석 →
R2386* Pathogenic — 미적재 해석 →
R2407* Likely pathogenic — 미적재 해석 →
R246C Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
R246G Likely pathogenic 0.997 pathogenic ✓ 해석 →
R246L Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
R37* Pathogenic/Likely pathogenic — 미적재 해석 →
R418* Pathogenic/Likely pathogenic — 미적재 해석 →
R444* Likely pathogenic — 미적재 해석 →
R466* Likely pathogenic — 미적재 해석 →
R654* Pathogenic — 미적재 해석 →
R701H Conflicting classifications of pathogeni 0.095 benign 해석 →
R781Q Conflicting classifications of pathogeni 0.485 ambiguous 해석 →
R808* Likely pathogenic — 미적재 해석 →
S1737Y Pathogenic 0.870 pathogenic ✓ 해석 →
S1772Y Likely pathogenic 0.998 pathogenic ✓ 해석 →
S2041N Pathogenic 0.999 pathogenic ✓ 해석 →
S2043P Likely pathogenic 1.000 pathogenic ✓ 해석 →
S26* Likely pathogenic — 미적재 해석 →
S322* Pathogenic — 미적재 해석 →
S559L Conflicting classifications of pathogeni 0.072 benign 해석 →
S576* Pathogenic — 미적재 해석 →
S576* Pathogenic — 미적재 해석 →
S79* Pathogenic — 미적재 해석 →
T1621A Conflicting classifications of pathogeni 0.496 ambiguous 해석 →
T1621M Pathogenic/Likely pathogenic 0.599 pathogenic ✓ 해석 →
T1884I Likely pathogenic 0.993 pathogenic ✓ 해석 →
V178D Likely pathogenic 1.000 pathogenic ✓ 해석 →
W2001* Pathogenic — 미적재 해석 →
W2275* Likely pathogenic — 미적재 해석 →
Y1683C Likely pathogenic 0.997 pathogenic ✓ 해석 →
Y1847C Likely pathogenic 0.996 pathogenic ✓ 해석 →
Y1847F Conflicting classifications of pathogeni 0.793 pathogenic 해석 →
Y187D Likely pathogenic 0.985 pathogenic ✓ 해석 →
Y2084H Pathogenic 0.998 pathogenic ✓ 해석 →
Y2163C Pathogenic 0.980 pathogenic ✓ 해석 →
Y266* Likely pathogenic — 미적재 해석 →
Y266C Likely pathogenic 0.925 pathogenic ✓ 해석 →
Y266H Conflicting classifications of pathogeni 0.981 pathogenic 해석 →
A1064D Uncertain significance 0.106 benign 해석 →
A107V Likely benign 0.076 benign ✓ 해석 →
A1158G Uncertain significance 0.083 benign 해석 →
A1178T Likely benign 0.065 benign ✓ 해석 →
A1198P Uncertain significance 0.175 benign 해석 →
A1249D Uncertain significance 0.230 benign 해석 →
A1410T Uncertain significance 0.736 pathogenic 해석 →
A1526P Uncertain significance 0.816 pathogenic 해석 →
A1690T Uncertain significance 0.685 pathogenic 해석 →
A1836P Uncertain significance 0.995 pathogenic 해석 →
A2009G Benign 0.109 benign ✓ 해석 →
A2009S Uncertain significance 0.078 benign 해석 →
A2057G Uncertain significance 0.650 pathogenic 해석 →
A2057P Uncertain significance 0.998 pathogenic 해석 →
A2129G Uncertain significance 0.836 pathogenic 해석 →
A2137T Uncertain significance 0.915 pathogenic 해석 →
A2315T Uncertain significance 0.462 ambiguous 해석 →
A2344T Uncertain significance 0.085 benign 해석 →
A2356S Conflicting classifications of pathogeni 0.074 benign 해석 →
A2356T Uncertain significance 0.063 benign 해석 →
A2356V Uncertain significance 0.107 benign 해석 →
A2371T Benign/Likely benign 0.263 benign ✓ 해석 →
A2373S Uncertain significance 0.413 ambiguous 해석 →
A2389V Uncertain significance 0.364 ambiguous 해석 →
A2464T Uncertain significance 0.092 benign 해석 →
A345T Conflicting classifications of pathogeni 0.095 benign 해석 →
A364G Uncertain significance 0.119 benign 해석 →
A377V Conflicting classifications of pathogeni 0.094 benign 해석 →
A386G Uncertain significance 0.092 benign 해석 →
A386S Uncertain significance 0.076 benign 해석 →
A39V Uncertain significance 0.065 benign 해석 →
A3D Uncertain significance 0.708 pathogenic 해석 →
A408T Uncertain significance 0.113 benign 해석 →
A419V Likely benign 0.087 benign ✓ 해석 →
A422T Uncertain significance 0.067 benign 해석 →
A437G Uncertain significance 0.088 benign 해석 →
A437T Uncertain significance 0.068 benign 해석 →
A443E Uncertain significance 0.103 benign 해석 →
A462P Benign 0.119 benign ✓ 해석 →
A462S Uncertain significance 0.084 benign 해석 →
A462V Likely benign 0.085 benign ✓ 해석 →
A603V Uncertain significance 0.082 benign 해석 →
A707G Likely benign 0.088 benign ✓ 해석 →
A736T Uncertain significance 0.077 benign 해석 →
A771E Likely benign 0.101 benign ✓ 해석 →
A771V Conflicting classifications of pathogeni 0.082 benign 해석 →
A833V Likely benign 0.090 benign ✓ 해석 →
A879S Likely benign 0.076 benign ✓ 해석 →
A940T Uncertain significance 0.070 benign 해석 →
A940V Uncertain significance 0.096 benign 해석 →
C1026S Uncertain significance 0.071 benign 해석 →
C1074R Uncertain significance 0.084 benign 해석 →
C1074W Benign 0.118 benign ✓ 해석 →
C1094Y Conflicting classifications of pathogeni 0.075 benign 해석 →
C1107Y Uncertain significance 0.076 benign 해석 →
C1122F Likely benign 0.074 benign ✓ 해석 →
C1122S Uncertain significance 0.087 benign 해석 →
C1574R Uncertain significance 0.998 pathogenic 해석 →
C220R Uncertain significance 1.000 pathogenic 해석 →
C223S Uncertain significance 1.000 pathogenic 해석 →
C265R Uncertain significance 1.000 pathogenic 해석 →
C265W Uncertain significance 1.000 pathogenic 해석 →
C280R Uncertain significance 0.998 pathogenic 해석 →
C335S Likely benign 0.072 benign ✓ 해석 →
C450R Likely benign 0.112 benign ✓ 해석 →
C605Y Likely benign 0.076 benign ✓ 해석 →
C627Y Conflicting classifications of pathogeni 0.077 benign 해석 →
C954F Likely benign 0.086 benign ✓ 해석 →
D1014N Benign 0.087 benign ✓ 해석 →
D1041V Conflicting classifications of pathogeni 0.092 benign 해석 →
D1051E Likely benign 0.076 benign ✓ 해석 →
D1051G Conflicting classifications of pathogeni 0.068 benign 해석 →
D1051H Uncertain significance 0.134 benign 해석 →
D1058G Likely benign 0.063 benign ✓ 해석 →
D1062G Uncertain significance 0.076 benign 해석 →
D1072H Uncertain significance 0.128 benign 해석 →
D1075G Conflicting classifications of pathogeni 0.082 benign 해석 →
D1075H Uncertain significance 0.122 benign 해석 →
D1079E Uncertain significance 0.082 benign 해석 →
D1079V Uncertain significance 0.098 benign 해석 →
D1106E Uncertain significance 0.113 benign 해석 →
D1106G Uncertain significance 0.102 benign 해석 →
D1111A Uncertain significance 0.181 benign 해석 →
D1111E Uncertain significance 0.179 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.