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

VDR: AM vs ClinVar 일치도

194 변이
✓ 둘 다 병원성
18
✓ 둘 다 양성
2
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
174
AM ↔ ClinVar 비교 가능 변이 20건 중 20건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
E112* Pathogenic — 미적재 해석 →
E127* Likely pathogenic — 미적재 해석 →
E329K Pathogenic 0.994 pathogenic ✓ 해석 →
E329Q Conflicting classifications of pathogeni 0.980 pathogenic 해석 →
G304R Likely pathogenic 0.982 pathogenic ✓ 해석 →
G33D Pathogenic 1.000 pathogenic ✓ 해석 →
G46D Pathogenic 1.000 pathogenic ✓ 해석 →
H305Q Pathogenic 0.930 pathogenic ✓ 해석 →
H397P Pathogenic 0.989 pathogenic ✓ 해석 →
I268T Conflicting classifications of pathogeni 0.778 pathogenic 해석 →
I314S Uncertain significance 0.890 pathogenic 해석 →
M1T Conflicting classifications of pathogeni 0.449 ambiguous 해석 →
Q152* Pathogenic — 미적재 해석 →
Q259E Conflicting classifications of pathogeni 0.782 pathogenic 해석 →
Q347* Pathogenic — 미적재 해석 →
Q385* Likely pathogenic — 미적재 해석 →
R274H Pathogenic/Likely pathogenic 0.821 pathogenic ✓ 해석 →
R274L Pathogenic 0.962 pathogenic ✓ 해석 →
R30* Pathogenic — 미적재 해석 →
R343C Likely pathogenic 0.971 pathogenic ✓ 해석 →
R391C Pathogenic 0.975 pathogenic ✓ 해석 →
R391H Pathogenic 0.915 pathogenic ✓ 해석 →
R391S Pathogenic 0.998 pathogenic ✓ 해석 →
R50* Pathogenic — 미적재 해석 →
R50Q Pathogenic 0.999 pathogenic ✓ 해석 →
R73* Pathogenic — 미적재 해석 →
R73Q Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R80Q Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
R80W Likely pathogenic 1.000 pathogenic ✓ 해석 →
S187* Pathogenic — 미적재 해석 →
V26M Likely pathogenic 0.999 pathogenic ✓ 해석 →
V346M Likely pathogenic 0.617 pathogenic ✓ 해석 →
W286R Pathogenic 0.999 pathogenic ✓ 해석 →
Y295* Pathogenic — 미적재 해석 →
A349T Uncertain significance 0.069 benign 해석 →
A350P Uncertain significance 0.118 benign 해석 →
A350T Conflicting classifications of pathogeni 0.070 benign 해석 →
A350V Uncertain significance 0.086 benign 해석 →
A388D Uncertain significance 0.993 pathogenic 해석 →
A56T Uncertain significance 0.722 pathogenic 해석 →
A5V Uncertain significance 0.157 benign 해석 →
A6V Uncertain significance 0.123 benign 해석 →
A78V Uncertain significance 0.877 pathogenic 해석 →
C24S Uncertain significance 1.000 pathogenic 해석 →
C27R Uncertain significance 1.000 pathogenic 해석 →
C369G Uncertain significance 0.257 benign 해석 →
C410F Uncertain significance 0.126 benign 해석 →
C76F Uncertain significance 1.000 pathogenic 해석 →
C79Y Uncertain significance 1.000 pathogenic 해석 →
D137E Uncertain significance 0.074 benign 해석 →
D149G Uncertain significance 0.307 benign 해석 →
D15G Uncertain significance 0.191 benign 해석 →
D17H Uncertain significance 0.619 pathogenic 해석 →
D181G Uncertain significance 0.080 benign 해석 →
D181N Uncertain significance 0.067 benign 해석 →
D211G Uncertain significance 0.078 benign 해석 →
D232E Uncertain significance 0.951 pathogenic 해석 →
D253E Uncertain significance 0.095 benign 해석 →
D258N Uncertain significance 0.875 pathogenic 해석 →
D282G Uncertain significance 0.117 benign 해석 →
D282N Uncertain significance 0.091 benign 해석 →
D292H Uncertain significance 0.224 benign 해석 →
D292V Uncertain significance 0.195 benign 해석 →
D29G Uncertain significance 0.999 pathogenic 해석 →
D71G Uncertain significance 0.909 pathogenic 해석 →
D86G Uncertain significance 0.326 benign 해석 →
E220Q Uncertain significance 0.091 benign 해석 →
E257D Uncertain significance 0.075 benign 해석 →
E2K Uncertain significance 0.485 ambiguous 해석 →
E311D Uncertain significance 0.297 benign 해석 →
E395Q Uncertain significance 0.499 ambiguous 해석 →
E396K Uncertain significance 0.853 pathogenic 해석 →
E425K Uncertain significance 0.384 ambiguous 해석 →
E92K Uncertain significance 0.982 pathogenic 해석 →
E99A Uncertain significance 0.859 pathogenic 해석 →
F34L Uncertain significance 1.000 pathogenic 해석 →
F406I Uncertain significance 0.270 benign 해석 →
F406Y Uncertain significance 0.250 benign 해석 →
G180R Uncertain significance 0.092 benign 해석 →
G250R Uncertain significance 0.829 pathogenic 해석 →
G33A Uncertain significance 0.995 pathogenic 해석 →
G375D Uncertain significance 0.444 ambiguous 해석 →
G43A Uncertain significance 0.994 pathogenic 해석 →
G46A Uncertain significance 0.994 pathogenic 해석 →
G64E Uncertain significance 0.568 pathogenic 해석 →
H140P Uncertain significance 0.895 pathogenic 해석 →
H189N Uncertain significance 0.055 benign 해석 →
H229D Uncertain significance 0.985 pathogenic 해석 →
I132S Uncertain significance 0.900 pathogenic 해석 →
I132V Uncertain significance 0.123 benign 해석 →
I242T Uncertain significance 0.796 pathogenic 해석 →
I338M Uncertain significance 0.300 benign 해석 →
I355V Uncertain significance 0.097 benign 해석 →
I68V Uncertain significance 0.562 ambiguous 해석 →
I87V Uncertain significance 0.191 benign 해석 →
K240N Uncertain significance 0.948 pathogenic 해석 →
K315N Uncertain significance 0.880 pathogenic 해석 →
K53Q Uncertain significance 0.960 pathogenic 해석 →
L116W Uncertain significance 0.194 benign 해석 →
L205V Uncertain significance 0.067 benign 해석 →
L224F Uncertain significance 0.138 benign 해석 →
L230V Uncertain significance 0.238 benign 해석 →
L323V Uncertain significance 0.638 pathogenic 해석 →
L363P Uncertain significance 0.999 pathogenic 해석 →
L414P Uncertain significance 0.987 pathogenic 해석 →
M1R Uncertain significance 0.549 ambiguous 해석 →
M1T Uncertain significance 0.449 ambiguous 해석 →
M272V Uncertain significance 0.696 pathogenic 해석 →
M4V Uncertain significance 0.057 benign 해석 →
M52I Conflicting classifications of pathogeni 0.879 pathogenic 해석 →
M52T Uncertain significance 0.958 pathogenic 해석 →
N171K Uncertain significance 0.091 benign 해석 →
N204H Uncertain significance 0.066 benign 해석 →
N204K Uncertain significance 0.124 benign 해석 →
N290S Conflicting classifications of pathogeni 0.052 benign 해석 →
N361S Uncertain significance 0.067 benign 해석 →
N37S Uncertain significance 0.632 pathogenic 해석 →
P145T Uncertain significance 0.105 benign 해석 →
P155T Uncertain significance 0.425 ambiguous 해석 →
P170H Uncertain significance 0.078 benign 해석 →
P170S Likely benign 0.071 benign ✓ 해석 →
P176L Uncertain significance 0.073 benign 해석 →
P21S Uncertain significance 0.695 pathogenic 해석 →
P228L Uncertain significance 0.797 pathogenic 해석 →
P312S Uncertain significance 0.865 pathogenic 해석 →
P344S Uncertain significance 0.280 benign 해석 →
P372L Uncertain significance 0.130 benign 해석 →
P374L Uncertain significance 0.275 benign 해석 →
P374R Uncertain significance 0.230 benign 해석 →
P416L Uncertain significance 0.965 pathogenic 해석 →
P61L Uncertain significance 0.802 pathogenic 해석 →
Q347R Uncertain significance 0.086 benign 해석 →
R104Q Uncertain significance 0.819 pathogenic 해석 →
R104W Uncertain significance 0.958 pathogenic 해석 →
R110Q Uncertain significance 0.445 ambiguous 해석 →
R121Q Uncertain significance 0.084 benign 해석 →
R121W Uncertain significance 0.174 benign 해석 →
R130C Uncertain significance 0.086 benign 해석 →
R130H Uncertain significance 0.058 benign 해석 →
R130P Uncertain significance 0.793 pathogenic 해석 →
R154G Uncertain significance 0.962 pathogenic 해석 →
R154W Uncertain significance 0.805 pathogenic 해석 →
R158H Uncertain significance 0.313 benign 해석 →
R173S Conflicting classifications of pathogeni 0.093 benign 해석 →
R18Q Uncertain significance 0.230 benign 해석 →
R18W Conflicting classifications of pathogeni 0.573 pathogenic 해석 →
R22P Uncertain significance 0.973 pathogenic 해석 →
R22Q Uncertain significance 0.780 pathogenic 해석 →
R22W Conflicting classifications of pathogeni 0.945 pathogenic 해석 →
R274C Uncertain significance 0.895 pathogenic 해석 →
R274P Uncertain significance 0.999 pathogenic 해석 →
R296C Uncertain significance 0.081 benign 해석 →
R30Q Uncertain significance 0.373 ambiguous 해석 →
R358C Uncertain significance 0.147 benign 해석 →
R358H Conflicting classifications of pathogeni 0.079 benign 해석 →
R368C Uncertain significance 0.101 benign 해석 →
R368H Uncertain significance 0.081 benign 해석 →
R368L Uncertain significance 0.117 benign 해석 →
R370C Uncertain significance 0.092 benign 해석 →
R370G Uncertain significance 0.294 benign 해석 →
R370H Uncertain significance 0.074 benign 해석 →
R402C Uncertain significance 0.340 ambiguous 해석 →
R402H Uncertain significance 0.223 benign 해석 →
R54Q Uncertain significance 0.816 pathogenic 해석 →
R54W Uncertain significance 0.964 pathogenic 해석 →
R67C Uncertain significance 0.138 benign 해석 →
R67H Uncertain significance 0.089 benign 해석 →
R74H Uncertain significance 0.993 pathogenic 해석 →
R74S Uncertain significance 1.000 pathogenic 해석 →
S208N Uncertain significance 0.063 benign 해석 →
S212T Uncertain significance 0.064 benign 해석 →
S256A Uncertain significance 0.053 benign 해석 →
S275F Uncertain significance 0.968 pathogenic 해석 →
S298G Uncertain significance 0.078 benign 해석 →
S405F Uncertain significance 0.610 pathogenic 해석 →
S427A Uncertain significance 0.161 benign 해석 →
S51T Uncertain significance 0.689 pathogenic 해석 →
T192S Conflicting classifications of pathogeni 0.064 benign 해석 →
T301A Uncertain significance 0.069 benign 해석 →
T362I Conflicting classifications of pathogeni 0.188 benign 해석 →
T365M Uncertain significance 0.112 benign 해석 →
T415M Uncertain significance 0.689 pathogenic 해석 →
T59I Conflicting classifications of pathogeni 0.572 pathogenic 해석 →
T8S Uncertain significance 0.078 benign 해석 →
V100A Uncertain significance 0.994 pathogenic 해석 →
V20M Uncertain significance 0.181 benign 해석 →
V261I Uncertain significance 0.117 benign 해석 →
V297I Conflicting classifications of pathogeni 0.066 benign 해석 →
V339A Conflicting classifications of pathogeni 0.604 pathogenic 해석 →
V339I Likely benign 0.094 benign ✓ 해석 →
Y366H Uncertain significance 0.887 pathogenic 해석 →
E409Q - 0.101 benign 해석 →
R296H - 0.067 benign 해석 →
S194L - 0.063 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.