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

AR: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
174
✓ 둘 다 양성
26
⚠ CV=병원성 / AM=양성
6
⚠ CV=양성 / AM=병원성
3
— AM 미적재
291
AM ↔ ClinVar 비교 가능 변이 209건 중 200건 일치 / 9건 불일치 — 일치도 95.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*921R Likely pathogenic — 미적재 해석 →
A159T Conflicting classifications of pathogeni 0.149 benign 해석 →
A403V Pathogenic 0.178 benign ⚠ 해석 →
A429D Likely pathogenic 0.304 benign ⚠ 해석 →
A574P Likely pathogenic 0.999 pathogenic ✓ 해석 →
A587D Likely pathogenic 1.000 pathogenic ✓ 해석 →
A588P Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
A597T Pathogenic 0.997 pathogenic ✓ 해석 →
A646D Conflicting classifications of pathogeni 0.177 benign 해석 →
A688V Pathogenic/Likely pathogenic 0.979 pathogenic ✓ 해석 →
A720V Conflicting classifications of pathogeni 0.981 pathogenic 해석 →
A722T Uncertain significance 0.548 ambiguous 해석 →
A736D Likely pathogenic 0.972 pathogenic ✓ 해석 →
A749V Likely pathogenic 0.958 pathogenic ✓ 해석 →
A766D Pathogenic 1.000 pathogenic ✓ 해석 →
A766S Likely pathogenic 0.730 pathogenic ✓ 해석 →
A766T Pathogenic 0.997 pathogenic ✓ 해석 →
A871E Pathogenic 0.997 pathogenic ✓ 해석 →
A871G Likely pathogenic 0.785 pathogenic ✓ 해석 →
A871V Pathogenic/Likely pathogenic 0.508 ambiguous 해석 →
C131* Pathogenic — 미적재 해석 →
C406* Likely pathogenic — 미적재 해석 →
C563Y Pathogenic 1.000 pathogenic ✓ 해석 →
C577R Pathogenic 1.000 pathogenic ✓ 해석 →
C580F Pathogenic 1.000 pathogenic ✓ 해석 →
C580Y Pathogenic 1.000 pathogenic ✓ 해석 →
C596R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C596Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C602F Pathogenic 1.000 pathogenic ✓ 해석 →
C602G Pathogenic 1.000 pathogenic ✓ 해석 →
C602Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
C612S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C687R Pathogenic 0.983 pathogenic ✓ 해석 →
C807* Pathogenic — 미적재 해석 →
C807Y Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
D551H Conflicting classifications of pathogeni 0.895 pathogenic 해석 →
D605G Pathogenic 1.000 pathogenic ✓ 해석 →
D605H Likely pathogenic 1.000 pathogenic ✓ 해석 →
D691E Pathogenic 0.972 pathogenic ✓ 해석 →
D691G Likely pathogenic 0.990 pathogenic ✓ 해석 →
D696N Pathogenic 0.945 pathogenic ✓ 해석 →
D696V Likely pathogenic 0.992 pathogenic ✓ 해석 →
D733N Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
D768Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
D829V Pathogenic 0.987 pathogenic ✓ 해석 →
D865N Pathogenic 0.996 pathogenic ✓ 해석 →
E155* Pathogenic — 미적재 해석 →
E187* Pathogenic — 미적재 해석 →
E204* Pathogenic — 미적재 해석 →
E252* Pathogenic — 미적재 해석 →
E289* Pathogenic — 미적재 해석 →
E2K Pathogenic 0.888 pathogenic ✓ 해석 →
E323* Pathogenic/Likely pathogenic — 미적재 해석 →
E355* Pathogenic — 미적재 해석 →
E355Q Conflicting classifications of pathogeni 0.124 benign 해석 →
E474G Likely pathogenic 0.101 benign ⚠ 해석 →
E523* Pathogenic — 미적재 해석 →
E645* Likely pathogenic — 미적재 해석 →
E682D Likely pathogenic 0.989 pathogenic ✓ 해석 →
E682G Likely pathogenic 0.990 pathogenic ✓ 해석 →
E682K Pathogenic 0.994 pathogenic ✓ 해석 →
E710K Pathogenic 0.994 pathogenic ✓ 해석 →
E773G Likely pathogenic 0.986 pathogenic ✓ 해석 →
E773K Likely pathogenic 0.996 pathogenic ✓ 해석 →
E804G Likely pathogenic 0.999 pathogenic ✓ 해석 →
E838* Pathogenic — 미적재 해석 →
F583L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F583Y Pathogenic 0.985 pathogenic ✓ 해석 →
F584V Likely pathogenic 1.000 pathogenic ✓ 해석 →
F726L Pathogenic 1.000 pathogenic ✓ 해석 →
F765L Pathogenic 1.000 pathogenic ✓ 해석 →
F827L Conflicting classifications of pathogeni 0.843 pathogenic 해석 →
F828L Pathogenic 0.999 pathogenic ✓ 해석 →
F857L Pathogenic 0.999 pathogenic ✓ 해석 →
F879S Likely pathogenic 0.997 pathogenic ✓ 해석 →
G248V Pathogenic 0.944 pathogenic ✓ 해석 →
G396R Conflicting classifications of pathogeni 0.335 benign 해석 →
G454R Likely pathogenic 0.263 benign ⚠ 해석 →
G569W Pathogenic 1.000 pathogenic ✓ 해석 →
G569W Likely pathogenic 1.000 pathogenic ✓ 해석 →
G578R Pathogenic 1.000 pathogenic ✓ 해석 →
G590E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G709E Pathogenic 1.000 pathogenic ✓ 해석 →
G709V Likely pathogenic 0.994 pathogenic ✓ 해석 →
G744E Pathogenic 0.980 pathogenic ✓ 해석 →
G744V Pathogenic 0.746 pathogenic ✓ 해석 →
H690P Pathogenic 0.990 pathogenic ✓ 해석 →
H690Q Conflicting classifications of pathogeni 0.982 pathogenic 해석 →
H777D Likely pathogenic 0.986 pathogenic ✓ 해석 →
H875Y Pathogenic 0.854 pathogenic ✓ 해석 →
H886L Pathogenic 0.674 pathogenic ✓ 해석 →
I562T Likely pathogenic 1.000 pathogenic ✓ 해석 →
I604F Likely pathogenic 0.999 pathogenic ✓ 해석 →
I681N Likely pathogenic 0.997 pathogenic ✓ 해석 →
I836S Uncertain significance 0.997 pathogenic 해석 →
I843T Pathogenic 0.937 pathogenic ✓ 해석 →
I870M Pathogenic 0.544 ambiguous 해석 →
I899T Likely pathogenic 0.998 pathogenic ✓ 해석 →
I900F Pathogenic 0.994 pathogenic ✓ 해석 →
I900M Likely pathogenic 0.911 pathogenic ✓ 해석 →
K301R Conflicting classifications of pathogeni 0.096 benign 해석 →
K581N Likely pathogenic 1.000 pathogenic ✓ 해석 →
K581R Likely pathogenic 0.979 pathogenic ✓ 해석 →
K581T Likely pathogenic 0.999 pathogenic ✓ 해석 →
K585E Likely pathogenic 1.000 pathogenic ✓ 해석 →
K585Q Likely pathogenic 0.999 pathogenic ✓ 해석 →
K591* Pathogenic — 미적재 해석 →
K610E Likely pathogenic 1.000 pathogenic ✓ 해석 →
K633* Pathogenic — 미적재 해석 →
K659R Conflicting classifications of pathogeni 0.096 benign 해석 →
K884* Pathogenic — 미적재 해석 →
L174* Pathogenic — 미적재 해석 →
L369P Conflicting classifications of pathogeni 0.191 benign 해석 →
L575V Conflicting classifications of pathogeni 0.609 pathogenic 해석 →
L617P Pathogenic 1.000 pathogenic ✓ 해석 →
L678P Pathogenic 1.000 pathogenic ✓ 해석 →
L701F Pathogenic 0.987 pathogenic ✓ 해석 →
L702F Likely pathogenic 0.989 pathogenic ✓ 해석 →
L702H Likely pathogenic 0.997 pathogenic ✓ 해석 →
L708R Pathogenic 0.995 pathogenic ✓ 해석 →
L713F Pathogenic 0.992 pathogenic ✓ 해석 →
L713I Likely pathogenic 0.916 pathogenic ✓ 해석 →
L723F Likely pathogenic 0.963 pathogenic ✓ 해석 →
L723S Pathogenic 0.998 pathogenic ✓ 해석 →
L745F Likely pathogenic 0.937 pathogenic ✓ 해석 →
L763V Likely pathogenic 0.968 pathogenic ✓ 해석 →
L811P Likely pathogenic 1.000 pathogenic ✓ 해석 →
L813F Uncertain significance 0.719 pathogenic 해석 →
L813P Pathogenic 0.999 pathogenic ✓ 해석 →
L831F Pathogenic 0.987 pathogenic ✓ 해석 →
L831H Likely pathogenic 0.997 pathogenic ✓ 해석 →
L839I Pathogenic 0.917 pathogenic ✓ 해석 →
L860F Pathogenic 0.994 pathogenic ✓ 해석 →
L864P Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
L864R Likely pathogenic 0.998 pathogenic ✓ 해석 →
L908H Likely pathogenic 0.985 pathogenic ✓ 해석 →
M1I Pathogenic 0.881 pathogenic ✓ 해석 →
M1L Pathogenic 0.399 ambiguous 해석 →
M1T Likely pathogenic 0.849 pathogenic ✓ 해석 →
M625V Likely pathogenic 0.998 pathogenic ✓ 해석 →
M743K Pathogenic 0.994 pathogenic ✓ 해석 →
M743V Conflicting classifications of pathogeni 0.896 pathogenic 해석 →
M746T Pathogenic/Likely pathogenic 0.962 pathogenic ✓ 해석 →
M750V Pathogenic 0.596 pathogenic ✓ 해석 →
M781I Pathogenic 0.995 pathogenic ✓ 해석 →
M781I Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
M781K Likely pathogenic 0.997 pathogenic ✓ 해석 →
M788V Pathogenic 0.972 pathogenic ✓ 해석 →
M808T Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
N611K Pathogenic 1.000 pathogenic ✓ 해석 →
N692K Likely pathogenic 0.982 pathogenic ✓ 해석 →
N693K Likely pathogenic 0.839 pathogenic ✓ 해석 →
N706S Pathogenic 0.874 pathogenic ✓ 해석 →
N728K Pathogenic 0.966 pathogenic ✓ 해석 →
N757S Pathogenic/Likely pathogenic 0.367 ambiguous 해석 →
N772H Pathogenic 0.935 pathogenic ✓ 해석 →
P392R Conflicting classifications of pathogeni 0.193 benign 해석 →
P392S Conflicting classifications of pathogeni 0.069 benign 해석 →
P505T Conflicting classifications of pathogeni 0.261 benign 해석 →
P549S Uncertain significance 0.744 pathogenic 해석 →
P724L Pathogenic 0.991 pathogenic ✓ 해석 →
P724S Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
P767A Pathogenic 0.986 pathogenic ✓ 해석 →
P893L Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
P893R Likely pathogenic 0.998 pathogenic ✓ 해석 →
P893S Pathogenic 0.996 pathogenic ✓ 해석 →
P905L Likely pathogenic 0.995 pathogenic ✓ 해석 →
P914S Likely pathogenic 0.964 pathogenic ✓ 해석 →
P914T Likely pathogenic 0.876 pathogenic ✓ 해석 →
Q120* Pathogenic — 미적재 해석 →
Q488* Pathogenic — 미적재 해석 →
Q493* Pathogenic — 미적재 해석 →
Q58* Pathogenic — 미적재 해석 →
Q58L Conflicting classifications of pathogeni 0.218 benign 해석 →
Q59* Pathogenic — 미적재 해석 →
Q59* Pathogenic — 미적재 해석 →
Q60* Pathogenic — 미적재 해석 →
Q62* Pathogenic — 미적재 해석 →
Q63* Pathogenic — 미적재 해석 →
Q64* Pathogenic — 미적재 해석 →
Q658* Pathogenic — 미적재 해석 →
Q68* Pathogenic — 미적재 해석 →
Q70* Pathogenic — 미적재 해석 →
Q72* Pathogenic — 미적재 해석 →
Q73* Pathogenic — 미적재 해석 →
Q739R Likely pathogenic 0.978 pathogenic ✓ 해석 →
Q74* Pathogenic — 미적재 해석 →
Q77* Pathogenic — 미적재 해석 →
Q79* Likely pathogenic — 미적재 해석 →
Q799E Conflicting classifications of pathogeni 0.481 ambiguous 해석 →
Q825K Likely pathogenic 0.910 pathogenic ✓ 해석 →
Q859* Pathogenic — 미적재 해석 →
Q90* Pathogenic — 미적재 해석 →
Q903R Pathogenic 0.983 pathogenic ✓ 해석 →
Q91* Pathogenic — 미적재 해석 →
Q98* Pathogenic — 미적재 해석 →
R102* Pathogenic — 미적재 해석 →
R386L Likely pathogenic 0.422 ambiguous 해석 →
R511* Pathogenic — 미적재 해석 →
R586* 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.