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

RAG1: AM vs ClinVar 일치도

495 변이
✓ 둘 다 병원성
62
✓ 둘 다 양성
14
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
3
— AM 미적재
415
AM ↔ ClinVar 비교 가능 변이 80건 중 76건 일치 / 4건 불일치 — 일치도 95%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A444V Pathogenic 0.610 pathogenic ✓ 해석 →
A804V Likely pathogenic 0.965 pathogenic ✓ 해석 →
A868V Uncertain significance 0.176 benign 해석 →
C176F Uncertain significance 0.965 pathogenic 해석 →
C328Y Pathogenic/Likely pathogenic 0.974 pathogenic ✓ 해석 →
C335R Likely pathogenic 0.922 pathogenic ✓ 해석 →
C358Y Likely pathogenic 0.926 pathogenic ✓ 해석 →
C363Y Uncertain significance 0.863 pathogenic 해석 →
C730F Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
C733* Pathogenic/Likely pathogenic — 미적재 해석 →
D429G Pathogenic 0.875 pathogenic ✓ 해석 →
E366* Pathogenic — 미적재 해석 →
E510* Pathogenic — 미적재 해석 →
E54* Likely pathogenic — 미적재 해석 →
E575* Pathogenic — 미적재 해석 →
E669G Likely pathogenic 0.713 pathogenic ✓ 해석 →
E669K Pathogenic/Likely pathogenic 0.711 pathogenic ✓ 해석 →
E689* Pathogenic — 미적재 해석 →
E722K Pathogenic 0.935 pathogenic ✓ 해석 →
E755* Likely pathogenic — 미적재 해석 →
E774* Pathogenic/Likely pathogenic — 미적재 해석 →
E814D Uncertain significance 0.955 pathogenic 해석 →
E817* Pathogenic — 미적재 해석 →
F927S Likely pathogenic 0.997 pathogenic ✓ 해석 →
G392R Likely pathogenic 0.961 pathogenic ✓ 해석 →
G393V Conflicting classifications of pathogeni 0.895 pathogenic 해석 →
G709S Likely pathogenic 0.893 pathogenic ✓ 해석 →
H747P Likely pathogenic 0.931 pathogenic ✓ 해석 →
H753L Conflicting classifications of pathogeni 0.804 pathogenic 해석 →
H753R Conflicting classifications of pathogeni 0.866 pathogenic 해석 →
H798R Likely pathogenic 0.992 pathogenic ✓ 해석 →
H994R Conflicting classifications of pathogeni 0.989 pathogenic 해석 →
I956T Pathogenic 0.948 pathogenic ✓ 해석 →
K830* Pathogenic/Likely pathogenic — 미적재 해석 →
K86* Likely pathogenic — 미적재 해석 →
K992E Pathogenic 0.978 pathogenic ✓ 해석 →
L411P Likely pathogenic 0.995 pathogenic ✓ 해석 →
L454Q Likely pathogenic 0.992 pathogenic ✓ 해석 →
L872* Pathogenic — 미적재 해석 →
L872* Pathogenic — 미적재 해석 →
M1V Uncertain significance 0.101 benign 해석 →
M435V Pathogenic/Likely pathogenic 0.217 benign ⚠ 해석 →
M487R Pathogenic 0.991 pathogenic ✓ 해석 →
N855S Conflicting classifications of pathogeni 0.517 ambiguous 해석 →
N968K Uncertain significance 0.998 pathogenic 해석 →
P619L Conflicting classifications of pathogeni 0.871 pathogenic 해석 →
Q231* Pathogenic — 미적재 해석 →
Q407* Likely pathogenic — 미적재 해석 →
Q407E Likely pathogenic 0.629 pathogenic ✓ 해석 →
Q450* Likely pathogenic — 미적재 해석 →
Q501* Pathogenic/Likely pathogenic — 미적재 해석 →
Q61* Likely pathogenic — 미적재 해석 →
Q78* Pathogenic — 미적재 해석 →
Q812* Pathogenic — 미적재 해석 →
Q833* Likely pathogenic — 미적재 해석 →
Q917* Likely pathogenic — 미적재 해석 →
Q981P Pathogenic 0.880 pathogenic ✓ 해석 →
R108* Pathogenic — 미적재 해석 →
R112C Conflicting classifications of pathogeni 0.857 pathogenic 해석 →
R112H Conflicting classifications of pathogeni 0.823 pathogenic 해석 →
R142* Pathogenic — 미적재 해석 →
R314W Pathogenic/Likely pathogenic 0.514 ambiguous 해석 →
R332* Conflicting classifications of pathogeni — 미적재 해석 →
R394Q Pathogenic/Likely pathogenic 0.829 pathogenic ✓ 해석 →
R394W Pathogenic/Likely pathogenic 0.853 pathogenic ✓ 해석 →
R396C Pathogenic 0.934 pathogenic ✓ 해석 →
R396H Pathogenic 0.912 pathogenic ✓ 해석 →
R404Q Pathogenic 0.953 pathogenic ✓ 해석 →
R404W Pathogenic/Likely pathogenic 0.964 pathogenic ✓ 해석 →
R410Q Pathogenic/Likely pathogenic 0.844 pathogenic ✓ 해석 →
R410W Pathogenic/Likely pathogenic 0.940 pathogenic ✓ 해석 →
R474C Pathogenic 0.977 pathogenic ✓ 해석 →
R474H Pathogenic 0.972 pathogenic ✓ 해석 →
R507Q Conflicting classifications of pathogeni 0.807 pathogenic 해석 →
R507W Conflicting classifications of pathogeni 0.927 pathogenic 해석 →
R559S Pathogenic 0.991 pathogenic ✓ 해석 →
R559S Pathogenic 0.991 pathogenic ✓ 해석 →
R559W Pathogenic 0.914 pathogenic ✓ 해석 →
R561C Pathogenic 0.736 pathogenic ✓ 해석 →
R561H Pathogenic/Likely pathogenic 0.713 pathogenic ✓ 해석 →
R624C Pathogenic 0.913 pathogenic ✓ 해석 →
R624H Pathogenic/Likely pathogenic 0.951 pathogenic ✓ 해석 →
R699Q Likely pathogenic 0.537 ambiguous 해석 →
R699W Likely pathogenic 0.803 pathogenic ✓ 해석 →
R716Q Likely pathogenic 0.874 pathogenic ✓ 해석 →
R716W Pathogenic/Likely pathogenic 0.945 pathogenic ✓ 해석 →
R737C Pathogenic/Likely pathogenic 0.866 pathogenic ✓ 해석 →
R737H Pathogenic/Likely pathogenic 0.790 pathogenic ✓ 해석 →
R759C Likely pathogenic 0.823 pathogenic ✓ 해석 →
R764H Uncertain significance 0.512 ambiguous 해석 →
R776Q Pathogenic/Likely pathogenic 0.422 ambiguous 해석 →
R776W Pathogenic/Likely pathogenic 0.767 pathogenic ✓ 해석 →
R778Q Pathogenic 0.355 ambiguous 해석 →
R778W Pathogenic 0.759 pathogenic ✓ 해석 →
R841Q Pathogenic/Likely pathogenic 0.656 pathogenic ✓ 해석 →
R841W Pathogenic 0.879 pathogenic ✓ 해석 →
R897* Pathogenic — 미적재 해석 →
R897Q Uncertain significance 0.956 pathogenic 해석 →
R973C Pathogenic/Likely pathogenic 0.984 pathogenic ✓ 해석 →
R973H Pathogenic/Likely pathogenic 0.961 pathogenic ✓ 해석 →
R973P Likely pathogenic 0.999 pathogenic ✓ 해석 →
R973S Likely pathogenic 0.999 pathogenic ✓ 해석 →
R975Q Pathogenic/Likely pathogenic 0.983 pathogenic ✓ 해석 →
R975W Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
S401P Likely pathogenic 0.971 pathogenic ✓ 해석 →
S480G Conflicting classifications of pathogeni 0.866 pathogenic 해석 →
S783* Pathogenic/Likely pathogenic — 미적재 해석 →
T403I Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
V433M Pathogenic/Likely pathogenic 0.855 pathogenic ✓ 해석 →
V782D Likely pathogenic 0.990 pathogenic ✓ 해석 →
W180* Pathogenic/Likely pathogenic — 미적재 해석 →
W180* Likely pathogenic — 미적재 해석 →
W204* Pathogenic — 미적재 해석 →
W522* Pathogenic/Likely pathogenic — 미적재 해석 →
W522C Pathogenic 0.995 pathogenic ✓ 해석 →
W896* Likely pathogenic — 미적재 해석 →
W959* Pathogenic — 미적재 해석 →
Y333* Pathogenic — 미적재 해석 →
Y551* Pathogenic — 미적재 해석 →
Y589* Pathogenic/Likely pathogenic — 미적재 해석 →
Y728H Likely pathogenic 0.764 pathogenic ✓ 해석 →
Y912C Pathogenic 0.998 pathogenic ✓ 해석 →
Y938* Likely pathogenic — 미적재 해석 →
Y985C Likely pathogenic 0.656 pathogenic ✓ 해석 →
A1008T Uncertain significance 0.178 benign 해석 →
A105V Uncertain significance 0.145 benign 해석 →
A14T Uncertain significance 0.078 benign 해석 →
A156T Uncertain significance 0.104 benign 해석 →
A156V Uncertain significance 0.150 benign 해석 →
A190D Uncertain significance 0.143 benign 해석 →
A190T Uncertain significance 0.069 benign 해석 →
A217D Uncertain significance 0.148 benign 해석 →
A217T Uncertain significance 0.075 benign 해석 →
A246V Likely benign 0.085 benign ✓ 해석 →
A267G Uncertain significance 0.130 benign 해석 →
A267T Uncertain significance 0.067 benign 해석 →
A422S Uncertain significance 0.285 benign 해석 →
A441S Uncertain significance 0.213 benign 해석 →
A456D Conflicting classifications of pathogeni 0.636 pathogenic 해석 →
A468V Uncertain significance 0.530 ambiguous 해석 →
A557G Uncertain significance 0.236 benign 해석 →
A622T Uncertain significance 0.857 pathogenic 해석 →
A635D Uncertain significance 0.125 benign 해석 →
A635S Uncertain significance 0.070 benign 해석 →
A635V Uncertain significance 0.097 benign 해석 →
A64V Uncertain significance 0.066 benign 해석 →
A663E Uncertain significance 0.980 pathogenic 해석 →
A69G Uncertain significance 0.082 benign 해석 →
A735V Uncertain significance 0.286 benign 해석 →
A740G Uncertain significance 0.611 pathogenic 해석 →
A834S Uncertain significance 0.078 benign 해석 →
A83V Uncertain significance 0.072 benign 해석 →
A857V Uncertain significance 0.988 pathogenic 해석 →
A960S Uncertain significance 0.851 pathogenic 해석 →
A960V Uncertain significance 0.997 pathogenic 해석 →
C114R Uncertain significance 0.973 pathogenic 해석 →
C179Y Uncertain significance 0.972 pathogenic 해석 →
C192Y Conflicting classifications of pathogeni 0.087 benign 해석 →
C296S Uncertain significance 0.982 pathogenic 해석 →
C316S Uncertain significance 0.970 pathogenic 해석 →
C799Y Uncertain significance 0.998 pathogenic 해석 →
D1033G Uncertain significance 0.083 benign 해석 →
D121A Uncertain significance 0.122 benign 해석 →
D153E Uncertain significance 0.167 benign 해석 →
D153E Uncertain significance 0.167 benign 해석 →
D162E Likely benign 0.595 pathogenic ⚠ 해석 →
D162N Uncertain significance 0.141 benign 해석 →
D16G Conflicting classifications of pathogeni 0.083 benign 해석 →
D302E Benign 0.644 pathogenic ⚠ 해석 →
D429V Uncertain significance 0.886 pathogenic 해석 →
D51H Uncertain significance 0.108 benign 해석 →
D51V Uncertain significance 0.065 benign 해석 →
D549G Uncertain significance 0.357 ambiguous 해석 →
D554G Uncertain significance 0.145 benign 해석 →
D554V Uncertain significance 0.258 benign 해석 →
D576V Uncertain significance 0.216 benign 해석 →
D585N Uncertain significance 0.076 benign 해석 →
D587E Uncertain significance 0.109 benign 해석 →
D664E Uncertain significance 0.907 pathogenic 해석 →
D837Y Uncertain significance 0.972 pathogenic 해석 →
D867A Uncertain significance 0.100 benign 해석 →
D887N Benign/Likely benign 0.100 benign ✓ 해석 →
D93N Uncertain significance 0.078 benign 해석 →
D989G Uncertain significance 0.985 pathogenic 해석 →
E1032Q Uncertain significance 0.108 benign 해석 →
E1036Q Uncertain significance 0.114 benign 해석 →
E122V Uncertain significance 0.107 benign 해석 →
E17D Uncertain significance 0.145 benign 해석 →
E193K Benign 0.089 benign ✓ 해석 →
E341G Uncertain significance 0.162 benign 해석 →
E44K Uncertain significance 0.090 benign 해석 →
E453D Uncertain significance 0.591 pathogenic 해석 →
E579G Uncertain significance 0.205 benign 해석 →
E652K Uncertain significance 0.984 pathogenic 해석 →
E665K Uncertain significance 0.968 pathogenic 해석 →
E689K Uncertain significance 0.079 benign 해석 →
E770D Uncertain significance 0.779 pathogenic 해석 →
E876K Uncertain significance 0.066 benign 해석 →
E880K Benign 0.077 benign ✓ 해석 →
E948D Uncertain significance 0.984 pathogenic 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.