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

MCPH1: AM vs ClinVar 일치도

448 변이
✓ 둘 다 병원성
11
✓ 둘 다 양성
32
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
404
AM ↔ ClinVar 비교 가능 변이 44건 중 43건 일치 / 1건 불일치 — 일치도 97.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A93E Likely pathogenic 0.845 pathogenic ✓ 해석 →
C444* Likely pathogenic — 미적재 해석 →
C79F Likely pathogenic 0.949 pathogenic ✓ 해석 →
E122* Pathogenic — 미적재 해석 →
E14K Likely pathogenic 0.945 pathogenic ✓ 해석 →
E14K Likely pathogenic 0.945 pathogenic ✓ 해석 →
E225* Pathogenic — 미적재 해석 →
E22K Likely pathogenic 0.617 pathogenic ✓ 해석 →
E22K Likely pathogenic 0.617 pathogenic ✓ 해석 →
E521* Conflicting classifications of pathogeni — 미적재 해석 →
E88* Likely pathogenic — 미적재 해석 →
F43S Conflicting classifications of pathogeni 0.969 pathogenic 해석 →
F43S Conflicting classifications of pathogeni 0.969 pathogenic 해석 →
G245* Pathogenic/Likely pathogenic — 미적재 해석 →
G802* Pathogenic — 미적재 해석 →
H49Q Pathogenic 0.978 pathogenic ✓ 해석 →
H49Q Pathogenic 0.978 pathogenic ✓ 해석 →
K105* Pathogenic — 미적재 해석 →
K804* Likely pathogenic — 미적재 해석 →
L160* Pathogenic — 미적재 해석 →
L542* Pathogenic/Likely pathogenic — 미적재 해석 →
L650* Likely pathogenic — 미적재 해석 →
L746* Likely pathogenic — 미적재 해석 →
Q128* Pathogenic — 미적재 해석 →
Q199* Pathogenic — 미적재 해석 →
Q289* Likely pathogenic — 미적재 해석 →
Q323* Pathogenic — 미적재 해석 →
Q386* Pathogenic — 미적재 해석 →
Q441* Likely pathogenic — 미적재 해석 →
Q562* Likely pathogenic — 미적재 해석 →
Q660* Likely pathogenic — 미적재 해석 →
Q788* Conflicting classifications of pathogeni — 미적재 해석 →
R741* Conflicting classifications of pathogeni — 미적재 해석 →
S101* Pathogenic — 미적재 해석 →
S233* Pathogenic — 미적재 해석 →
S25* Pathogenic — 미적재 해석 →
S286* Pathogenic — 미적재 해석 →
S347* Pathogenic — 미적재 해석 →
S40* Pathogenic — 미적재 해석 →
S437* Likely pathogenic — 미적재 해석 →
S496* Likely pathogenic — 미적재 해석 →
S674* Pathogenic — 미적재 해석 →
S72L Pathogenic/Likely pathogenic 0.829 pathogenic ✓ 해석 →
S89* Likely pathogenic — 미적재 해석 →
T48I Likely pathogenic 0.976 pathogenic ✓ 해석 →
T48I Likely pathogenic 0.976 pathogenic ✓ 해석 →
W16* Likely pathogenic — 미적재 해석 →
W60* Likely pathogenic — 미적재 해석 →
W706* Likely pathogenic — 미적재 해석 →
W715* Conflicting classifications of pathogeni — 미적재 해석 →
Y56* Pathogenic — 미적재 해석 →
Y710* Likely pathogenic — 미적재 해석 →
A175T Conflicting classifications of pathogeni 0.085 benign 해석 →
A212T Benign 0.080 benign ✓ 해석 →
A2V Uncertain significance 0.372 ambiguous 해석 →
A2V Uncertain significance 0.372 ambiguous 해석 →
A318T Uncertain significance 0.077 benign 해석 →
A319T Uncertain significance 0.072 benign 해석 →
A37T Uncertain significance 0.840 pathogenic 해석 →
A37T Uncertain significance 0.840 pathogenic 해석 →
A398V Conflicting classifications of pathogeni 0.092 benign 해석 →
A3S Uncertain significance 0.098 benign 해석 →
A3S Uncertain significance 0.098 benign 해석 →
A401V Uncertain significance 0.082 benign 해석 →
A404V Uncertain significance 0.095 benign 해석 →
A494T Conflicting classifications of pathogeni 0.073 benign 해석 →
A506V Uncertain significance 0.092 benign 해석 →
A513G Uncertain significance 0.095 benign 해석 →
A518S Uncertain significance 0.083 benign 해석 →
A518V Uncertain significance 0.082 benign 해석 →
A555V Uncertain significance 0.082 benign 해석 →
A676V Uncertain significance 0.102 benign 해석 →
A702S Uncertain significance 0.168 benign 해석 →
A702V Uncertain significance 0.241 benign 해석 →
A737G Uncertain significance 0.423 ambiguous 해석 →
A761E Benign 0.149 benign ✓ 해석 →
A761G Benign 0.167 benign ✓ 해석 →
A761V Benign/Likely benign 0.065 benign ✓ 해석 →
A761V Likely benign 0.065 benign ✓ 해석 →
A793G Uncertain significance 0.298 benign 해석 →
A806V Uncertain significance 0.146 benign 해석 →
A806V Uncertain significance 0.146 benign 해석 →
A82D Uncertain significance 0.478 ambiguous 해석 →
A82P Uncertain significance 0.880 pathogenic 해석 →
A93T Uncertain significance 0.404 ambiguous 해석 →
C110F Uncertain significance 0.713 pathogenic 해석 →
C110R Uncertain significance 0.943 pathogenic 해석 →
C222R Conflicting classifications of pathogeni 0.133 benign 해석 →
C239F Uncertain significance 0.108 benign 해석 →
C371Y Uncertain significance 0.074 benign 해석 →
C388Y Uncertain significance 0.083 benign 해석 →
C498S Uncertain significance 0.090 benign 해석 →
C624Y Uncertain significance 0.079 benign 해석 →
C782Y Uncertain significance 0.902 pathogenic 해석 →
C826F Uncertain significance 0.224 benign 해석 →
D115V Uncertain significance 0.329 benign 해석 →
D115Y Uncertain significance 0.284 benign 해석 →
D148E Benign/Likely benign 0.194 benign ✓ 해석 →
D224E Uncertain significance 0.153 benign 해석 →
D224G Benign/Likely benign 0.092 benign ✓ 해석 →
D224V Uncertain significance 0.188 benign 해석 →
D236H Uncertain significance 0.149 benign 해석 →
D257E Likely benign 0.118 benign ✓ 해석 →
D261E Conflicting classifications of pathogeni 0.140 benign 해석 →
D314H Benign 0.110 benign ✓ 해석 →
D392G Benign 0.058 benign ✓ 해석 →
D392G Likely benign 0.058 benign ✓ 해석 →
D414G Uncertain significance 0.858 pathogenic 해석 →
D419A Uncertain significance 0.113 benign 해석 →
D472V Uncertain significance 0.140 benign 해석 →
D531E Likely benign 0.141 benign ✓ 해석 →
D539G Conflicting classifications of pathogeni 0.065 benign 해석 →
D618A Uncertain significance 0.129 benign 해석 →
D61G Conflicting classifications of pathogeni 0.241 benign 해석 →
D621H Uncertain significance 0.132 benign 해석 →
D622Y Uncertain significance 0.088 benign 해석 →
D758N Uncertain significance 0.112 benign 해석 →
D87E Uncertain significance 0.419 ambiguous 해석 →
D8N Uncertain significance 0.341 ambiguous 해석 →
D8N Uncertain significance 0.341 ambiguous 해석 →
E177A Uncertain significance 0.188 benign 해석 →
E177Q Uncertain significance 0.129 benign 해석 →
E182K Uncertain significance 0.165 benign 해석 →
E409V Uncertain significance 0.134 benign 해석 →
E427D Uncertain significance 0.114 benign 해석 →
E451K Benign/Likely benign 0.142 benign ✓ 해석 →
E457G Uncertain significance 0.086 benign 해석 →
E457K Conflicting classifications of pathogeni 0.088 benign 해석 →
E521D Uncertain significance 0.106 benign 해석 →
E521D Uncertain significance 0.106 benign 해석 →
E530A Uncertain significance 0.105 benign 해석 →
E530V Uncertain significance 0.159 benign 해석 →
E554V Uncertain significance 0.124 benign 해석 →
E577K Uncertain significance 0.060 benign 해석 →
E581G Uncertain significance 0.074 benign 해석 →
E593D Uncertain significance 0.099 benign 해석 →
E593Q Uncertain significance 0.116 benign 해석 →
E635K Uncertain significance 0.067 benign 해석 →
E681D Uncertain significance 0.111 benign 해석 →
E718G Uncertain significance 0.616 pathogenic 해석 →
E777K Uncertain significance 0.363 ambiguous 해석 →
E829D Likely benign 0.146 benign ✓ 해석 →
E88D Uncertain significance 0.870 pathogenic 해석 →
F118V Uncertain significance 0.058 benign 해석 →
F127V Uncertain significance 0.148 benign 해석 →
F154C Uncertain significance 0.625 pathogenic 해석 →
F280V Uncertain significance 0.068 benign 해석 →
F734L Likely benign 0.969 pathogenic ⚠ 해석 →
F763S Uncertain significance 0.916 pathogenic 해석 →
G20A Uncertain significance 0.287 benign 해석 →
G20A Uncertain significance 0.287 benign 해석 →
G20R Uncertain significance 0.204 benign 해석 →
G20R Uncertain significance 0.204 benign 해석 →
G524C Uncertain significance 0.097 benign 해석 →
G604R Conflicting classifications of pathogeni 0.078 benign 해석 →
G626S Conflicting classifications of pathogeni 0.069 benign 해석 →
G641R Uncertain significance 0.077 benign 해석 →
G643R Uncertain significance 0.131 benign 해석 →
G67R Uncertain significance 0.365 ambiguous 해석 →
G753R Uncertain significance 0.728 pathogenic 해석 →
G753R Uncertain significance 0.728 pathogenic 해석 →
G753R Uncertain significance 0.728 pathogenic 해석 →
G802R Uncertain significance 0.197 benign 해석 →
H202L Uncertain significance 0.089 benign 해석 →
H202R Uncertain significance 0.082 benign 해석 →
H232D Uncertain significance 0.129 benign 해석 →
H232Y Uncertain significance 0.071 benign 해석 →
H342R Uncertain significance 0.079 benign 해석 →
H342Y Uncertain significance 0.077 benign 해석 →
H346N Uncertain significance 0.081 benign 해석 →
H346R Uncertain significance 0.074 benign 해석 →
H364Q Uncertain significance 0.116 benign 해석 →
H396N Uncertain significance 0.068 benign 해석 →
H396Q Uncertain significance 0.084 benign 해석 →
H396Q Uncertain significance 0.084 benign 해석 →
H49D Uncertain significance 0.963 pathogenic 해석 →
H49D Uncertain significance 0.963 pathogenic 해석 →
H49R Uncertain significance 0.951 pathogenic 해석 →
H49R Uncertain significance 0.951 pathogenic 해석 →
H617R Uncertain significance 0.067 benign 해석 →
H732P Uncertain significance 0.095 benign 해석 →
H733Q Conflicting classifications of pathogeni 0.163 benign 해석 →
I166N Uncertain significance 0.096 benign 해석 →
I168V Uncertain significance 0.086 benign 해석 →
I216T Benign 0.148 benign ✓ 해석 →
I216V Uncertain significance 0.084 benign 해석 →
I264V Benign 0.065 benign ✓ 해석 →
I274T Conflicting classifications of pathogeni 0.095 benign 해석 →
I300V Conflicting classifications of pathogeni 0.082 benign 해석 →
I345M Uncertain significance 0.082 benign 해석 →
I381V Uncertain significance 0.064 benign 해석 →
I455K Uncertain significance 0.288 benign 해석 →
I473L Uncertain significance 0.097 benign 해석 →
I473V Uncertain significance 0.074 benign 해석 →
I481F Conflicting classifications of pathogeni 0.086 benign 해석 →
I481L Uncertain significance 0.085 benign 해석 →
I481T Uncertain significance 0.104 benign 해석 →
I481V Uncertain significance 0.068 benign 해석 →
I51V Uncertain significance 0.089 benign 해석 →
I51V Uncertain significance 0.089 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.