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

FTO: AM vs ClinVar 일치도

117 변이
✓ 둘 다 병원성
2
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
110
AM ↔ ClinVar 비교 가능 변이 7건 중 7건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
R316Q Likely pathogenic 0.908 pathogenic ✓ 해석 →
S319F Pathogenic 0.990 pathogenic ✓ 해석 →
A134T Benign 0.075 benign ✓ 해석 →
A163T Conflicting classifications of pathogeni 0.069 benign 해석 →
A227S Uncertain significance 0.533 ambiguous 해석 →
A241T Uncertain significance 0.154 benign 해석 →
A241V Uncertain significance 0.485 ambiguous 해석 →
A286V Uncertain significance 0.371 ambiguous 해석 →
A311S Uncertain significance 0.168 benign 해석 →
A341T Uncertain significance 0.320 benign 해석 →
A405V Benign 0.080 benign ✓ 해석 →
C326R Uncertain significance 0.583 pathogenic 해석 →
D144N Likely benign 0.078 benign ✓ 해석 →
D300G Uncertain significance 0.598 pathogenic 해석 →
D332A Uncertain significance 0.179 benign 해석 →
D332G Likely benign 0.149 benign ✓ 해석 →
D348V Uncertain significance 0.091 benign 해석 →
D35Y Uncertain significance 0.919 pathogenic 해석 →
D89V Uncertain significance 0.716 pathogenic 해석 →
E13* Uncertain significance — 미적재 해석 →
E190D Uncertain significance 0.099 benign 해석 →
E255G Uncertain significance 0.085 benign 해석 →
E263K Uncertain significance 0.140 benign 해석 →
E325V Likely benign 0.507 ambiguous 해석 →
E375K Uncertain significance 0.963 pathogenic 해석 →
F317I Uncertain significance 0.897 pathogenic 해석 →
F69V Uncertain significance 0.766 pathogenic 해석 →
G182A Benign/Likely benign 0.107 benign ✓ 해석 →
G222V Uncertain significance 0.960 pathogenic 해석 →
G251D Uncertain significance 0.079 benign 해석 →
G264D Uncertain significance 0.401 ambiguous 해석 →
G425V Uncertain significance 0.100 benign 해석 →
H261Q Uncertain significance 0.080 benign 해석 →
H290P Uncertain significance 0.334 benign 해석 →
H305R Uncertain significance 0.993 pathogenic 해석 →
H62R Uncertain significance 0.425 ambiguous 해석 →
I148V Uncertain significance 0.068 benign 해석 →
I492T Uncertain significance 0.075 benign 해석 →
I492V Uncertain significance 0.064 benign 해석 →
K126R Uncertain significance 0.074 benign 해석 →
K478E Uncertain significance 0.075 benign 해석 →
K48Q Uncertain significance 0.420 ambiguous 해석 →
K63N Uncertain significance 0.244 benign 해석 →
K88R Uncertain significance 0.093 benign 해석 →
L146M Uncertain significance 0.237 benign 해석 →
L203S Uncertain significance 0.993 pathogenic 해석 →
L262P Uncertain significance 0.096 benign 해석 →
L301P Uncertain significance 0.996 pathogenic 해석 →
L331S Uncertain significance 0.764 pathogenic 해석 →
L426V Uncertain significance 0.081 benign 해석 →
L489F Uncertain significance 0.576 pathogenic 해석 →
L496H Uncertain significance 0.689 pathogenic 해석 →
L51I Uncertain significance 0.105 benign 해석 →
M1V Uncertain significance 0.254 benign 해석 →
M223V Uncertain significance 0.933 pathogenic 해석 →
M297V Uncertain significance 0.904 pathogenic 해석 →
M400V Uncertain significance 0.122 benign 해석 →
N143S Uncertain significance 0.454 ambiguous 해석 →
N164H Uncertain significance 0.085 benign 해석 →
N387S Uncertain significance 0.062 benign 해석 →
N432S Uncertain significance 0.074 benign 해석 →
P119L Uncertain significance 0.154 benign 해석 →
P252S Uncertain significance 0.068 benign 해석 →
P29L Uncertain significance 0.813 pathogenic 해석 →
P361S Uncertain significance 0.137 benign 해석 →
P399S Uncertain significance 0.511 ambiguous 해석 →
P465S Uncertain significance 0.169 benign 해석 →
P486L Uncertain significance 0.382 ambiguous 해석 →
P505T Uncertain significance 0.094 benign 해석 →
P93R Uncertain significance 0.867 pathogenic 해석 →
Q210* Uncertain significance — 미적재 해석 →
Q314K Uncertain significance 0.109 benign 해석 →
Q339H Uncertain significance 0.151 benign 해석 →
Q385P Uncertain significance 0.853 pathogenic 해석 →
Q43H Uncertain significance 0.196 benign 해석 →
Q86R Uncertain significance 0.125 benign 해석 →
R12G Uncertain significance 0.666 pathogenic 해석 →
R265G Uncertain significance 0.861 pathogenic 해석 →
R316W Uncertain significance 0.931 pathogenic 해석 →
R388* Uncertain significance — 미적재 해석 →
R3C Uncertain significance 0.749 pathogenic 해석 →
R3P Uncertain significance 0.658 pathogenic 해석 →
R431G Uncertain significance 0.145 benign 해석 →
R431S Uncertain significance 0.383 ambiguous 해석 →
R445C not provided 0.610 pathogenic 해석 →
R455S Uncertain significance 0.961 pathogenic 해석 →
R473Q Uncertain significance 0.103 benign 해석 →
R52* Uncertain significance — 미적재 해석 →
R52Q Uncertain significance 0.144 benign 해석 →
R80Q Uncertain significance 0.099 benign 해석 →
R80W Uncertain significance 0.280 benign 해석 →
R84S Uncertain significance 0.702 pathogenic 해석 →
R96C Uncertain significance 0.879 pathogenic 해석 →
R96H Uncertain significance 0.904 pathogenic 해석 →
S256N Conflicting classifications of pathogeni 0.083 benign 해석 →
S358F Uncertain significance 0.263 benign 해석 →
T138S Uncertain significance 0.165 benign 해석 →
T150N Uncertain significance 0.554 ambiguous 해석 →
T202A Uncertain significance 0.447 ambiguous 해석 →
T320I Uncertain significance 0.973 pathogenic 해석 →
T32S Uncertain significance 0.436 ambiguous 해석 →
T330I Uncertain significance 0.864 pathogenic 해석 →
T436P Uncertain significance 0.118 benign 해석 →
T4A Uncertain significance 0.078 benign 해석 →
T71I Uncertain significance 0.104 benign 해석 →
V201I Uncertain significance 0.113 benign 해석 →
V272A Uncertain significance 0.738 pathogenic 해석 →
V417M Uncertain significance 0.130 benign 해석 →
V421F Uncertain significance 0.287 benign 해석 →
V428M Uncertain significance 0.080 benign 해석 →
V493F Uncertain significance 0.288 benign 해석 →
W270* Uncertain significance — 미적재 해석 →
Y30H Uncertain significance 0.964 pathogenic 해석 →
Y333C Uncertain significance 0.549 ambiguous 해석 →
Y39C Uncertain significance 0.142 benign 해석 →
L44V - 0.100 benign 해석 →
Q41H - 0.708 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.