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

KRAS: AM vs ClinVar 일치도

216 변이
✓ 둘 다 병원성
71
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
1
— AM 미적재
143
AM ↔ ClinVar 비교 가능 변이 73건 중 71건 일치 / 2건 불일치 — 일치도 97.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A146P Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
A146S Conflicting classifications of pathogeni 0.807 pathogenic 해석 →
A146T Conflicting classifications of pathogeni 0.990 pathogenic 해석 →
A146V Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
A18V Pathogenic 0.995 pathogenic ✓ 해석 →
A59L Likely pathogenic 0.995 pathogenic ✓ 해석 →
A59S Pathogenic/Likely pathogenic 0.930 pathogenic ✓ 해석 →
A59T Pathogenic 0.996 pathogenic ✓ 해석 →
D119N Likely pathogenic 0.995 pathogenic ✓ 해석 →
D153G Pathogenic/Likely pathogenic — 미적재 해석 →
D153V Pathogenic — 미적재 해석 →
D154G Likely pathogenic 0.749 pathogenic ✓ 해석 →
E153A Likely pathogenic 0.827 pathogenic ✓ 해석 →
E63D Conflicting classifications of pathogeni 0.972 pathogenic 해석 →
E63D Conflicting classifications of pathogeni 0.972 pathogenic 해석 →
F156I Pathogenic 0.981 pathogenic ✓ 해석 →
F156S Pathogenic 0.996 pathogenic ✓ 해석 →
F156V Pathogenic/Likely pathogenic 0.965 pathogenic ✓ 해석 →
G12A Pathogenic/Likely pathogenic 0.958 pathogenic ✓ 해석 →
G12C Likely pathogenic 0.998 pathogenic ✓ 해석 →
G12C Pathogenic 0.998 pathogenic ✓ 해석 →
G12D Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G12R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G12S Pathogenic 0.985 pathogenic ✓ 해석 →
G12V Pathogenic 0.995 pathogenic ✓ 해석 →
G13C Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
G13D Pathogenic 0.998 pathogenic ✓ 해석 →
G13R Pathogenic 0.997 pathogenic ✓ 해석 →
G13R Pathogenic 0.997 pathogenic ✓ 해석 →
G13V Pathogenic 0.995 pathogenic ✓ 해석 →
G15V Likely pathogenic 1.000 pathogenic ✓ 해석 →
G60D Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G60R Pathogenic 1.000 pathogenic ✓ 해석 →
G60S Pathogenic 0.999 pathogenic ✓ 해석 →
G60V Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G77C Likely pathogenic 0.996 pathogenic ✓ 해석 →
I36M Pathogenic/Likely pathogenic 0.976 pathogenic ✓ 해석 →
K117N Likely pathogenic 1.000 pathogenic ✓ 해석 →
K117N Pathogenic 1.000 pathogenic ✓ 해석 →
K117R Likely pathogenic 0.852 pathogenic ✓ 해석 →
K117T Likely pathogenic 0.998 pathogenic ✓ 해석 →
K147E Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
K147M Likely pathogenic 0.931 pathogenic ✓ 해석 →
K147N Likely pathogenic 0.996 pathogenic ✓ 해석 →
K147R Pathogenic 0.238 benign ⚠ 해석 →
K5E Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
K5N Pathogenic 0.992 pathogenic ✓ 해석 →
K5N Pathogenic 0.992 pathogenic ✓ 해석 →
K5Q Likely pathogenic 0.916 pathogenic ✓ 해석 →
L19F Likely pathogenic 0.981 pathogenic ✓ 해석 →
L19F Pathogenic 0.981 pathogenic ✓ 해석 →
L23R Conflicting classifications of pathogeni 0.984 pathogenic 해석 →
L53W Likely pathogenic 0.998 pathogenic ✓ 해석 →
M72L Pathogenic/Likely pathogenic 0.856 pathogenic ✓ 해석 →
M72L Pathogenic 0.856 pathogenic ✓ 해석 →
N116H Pathogenic 0.998 pathogenic ✓ 해석 →
N116S Likely pathogenic 0.955 pathogenic ✓ 해석 →
P34L Pathogenic 0.998 pathogenic ✓ 해석 →
P34Q Likely pathogenic 0.999 pathogenic ✓ 해석 →
P34R Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
Q22E Pathogenic 0.900 pathogenic ✓ 해석 →
Q22K Pathogenic/Likely pathogenic 0.980 pathogenic ✓ 해석 →
Q22L Likely pathogenic 0.970 pathogenic ✓ 해석 →
Q22R Pathogenic 0.902 pathogenic ✓ 해석 →
Q61H Pathogenic 0.998 pathogenic ✓ 해석 →
Q61H Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
Q61K Pathogenic 0.978 pathogenic ✓ 해석 →
Q61K Conflicting classifications of pathogeni 0.978 pathogenic 해석 →
Q61L Pathogenic 0.965 pathogenic ✓ 해석 →
Q61R Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
Q61R Pathogenic 0.987 pathogenic ✓ 해석 →
R149* Likely pathogenic — 미적재 해석 →
R164* Conflicting classifications of pathogeni — 미적재 해석 →
R68G Likely pathogenic 0.992 pathogenic ✓ 해석 →
R68S Pathogenic 0.999 pathogenic ✓ 해석 →
R68W Likely pathogenic 0.991 pathogenic ✓ 해석 →
R97K Likely pathogenic 0.425 ambiguous 해석 →
S65I Likely pathogenic 0.940 pathogenic ✓ 해석 →
T20M Likely pathogenic 0.977 pathogenic ✓ 해석 →
T50I Conflicting classifications of pathogeni 0.445 ambiguous 해석 →
T50P Likely pathogenic 0.376 ambiguous 해석 →
T58I Pathogenic 0.999 pathogenic ✓ 해석 →
T74I Likely pathogenic 0.927 pathogenic ✓ 해석 →
T74P Conflicting classifications of pathogeni 0.906 pathogenic 해석 →
V14I Pathogenic 0.855 pathogenic ✓ 해석 →
V152F Likely pathogenic 0.992 pathogenic ✓ 해석 →
V7E Likely pathogenic 0.997 pathogenic ✓ 해석 →
Y32C Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
Y71D Likely pathogenic 0.998 pathogenic ✓ 해석 →
Y71H Pathogenic 0.999 pathogenic ✓ 해석 →
A11S Uncertain significance 0.233 benign 해석 →
A130I Uncertain significance 0.871 pathogenic 해석 →
A130P Uncertain significance 0.989 pathogenic 해석 →
A130S Uncertain significance 0.413 ambiguous 해석 →
A130V Uncertain significance 0.706 pathogenic 해석 →
A134G Uncertain significance 0.393 ambiguous 해석 →
A134T Uncertain significance 0.960 pathogenic 해석 →
A59E Uncertain significance 0.999 pathogenic 해석 →
A59V not provided 0.999 pathogenic 해석 →
A66S Uncertain significance 0.744 pathogenic 해석 →
C118R Uncertain significance 0.904 pathogenic 해석 →
C51G Uncertain significance 0.864 pathogenic 해석 →
C51S Uncertain significance 0.871 pathogenic 해석 →
C51W Uncertain significance 0.992 pathogenic 해석 →
D108E Uncertain significance 0.140 benign 해석 →
D108Y Uncertain significance 0.283 benign 해석 →
D132E Uncertain significance 0.101 benign 해석 →
D154G Uncertain significance 0.749 pathogenic 해석 →
D154V Uncertain significance 0.627 pathogenic 해석 →
D30E Uncertain significance 0.427 ambiguous 해석 →
D33G Uncertain significance 1.000 pathogenic 해석 →
D38N Uncertain significance 0.997 pathogenic 해석 →
D47G Uncertain significance 0.943 pathogenic 해석 →
D92N Uncertain significance 0.712 pathogenic 해석 →
E31* Uncertain significance — 미적재 해석 →
E37* Uncertain significance — 미적재 해석 →
E63K Uncertain significance 0.997 pathogenic 해석 →
F28L Uncertain significance 1.000 pathogenic 해석 →
F90Y Uncertain significance 0.416 ambiguous 해석 →
G138A Uncertain significance 0.274 benign 해석 →
G15C Uncertain significance 1.000 pathogenic 해석 →
G174S Uncertain significance — 미적재 해석 →
G77S Uncertain significance 0.995 pathogenic 해석 →
G77V Uncertain significance 0.998 pathogenic 해석 →
H27L Uncertain significance 0.618 pathogenic 해석 →
H27R Uncertain significance 0.721 pathogenic 해석 →
H95N Uncertain significance 0.112 benign 해석 →
H95Y Uncertain significance 0.120 benign 해석 →
I163T Uncertain significance 0.971 pathogenic 해석 →
I163V Uncertain significance 0.440 ambiguous 해석 →
I187T Uncertain significance 0.135 benign 해석 →
I187V Uncertain significance 0.077 benign 해석 →
I188K Uncertain significance 0.461 ambiguous 해석 →
I21K Uncertain significance 0.999 pathogenic 해석 →
I36K Uncertain significance 0.999 pathogenic 해석 →
I36V Uncertain significance 0.768 pathogenic 해석 →
I46M Uncertain significance 0.707 pathogenic 해석 →
I46V Uncertain significance 0.239 benign 해석 →
I55S Uncertain significance 0.998 pathogenic 해석 →
I84V Uncertain significance 0.101 benign 해석 →
K169R Uncertain significance 0.072 benign 해석 →
K172N Uncertain significance — 미적재 해석 →
K179R Uncertain significance — 미적재 해석 →
K5* Uncertain significance — 미적재 해석 →
L52F Uncertain significance 0.870 pathogenic 해석 →
L6F Uncertain significance 0.946 pathogenic 해석 →
L6V Uncertain significance 0.336 benign 해석 →
M1* Uncertain significance — 미적재 해석 →
M111T Uncertain significance 0.865 pathogenic 해석 →
M111V Uncertain significance 0.237 benign 해석 →
M170I Uncertain significance — 미적재 해석 →
M170L Uncertain significance — 미적재 해석 →
M188I Uncertain significance — 미적재 해석 →
M188T Uncertain significance — 미적재 해석 →
M188V Uncertain significance — 미적재 해석 →
M72I not provided 0.978 pathogenic 해석 →
N26H Uncertain significance 0.568 pathogenic 해석 →
N26T Uncertain significance 0.832 pathogenic 해석 →
N26Y Uncertain significance 0.765 pathogenic 해석 →
P140S Uncertain significance 0.580 pathogenic 해석 →
Q22P Uncertain significance 0.998 pathogenic 해석 →
Q25L Uncertain significance 0.857 pathogenic 해석 →
Q25R Uncertain significance 0.866 pathogenic 해석 →
Q61P Uncertain significance 0.997 pathogenic 해석 →
R123I Uncertain significance 0.980 pathogenic 해석 →
R161* Uncertain significance — 미적재 해석 →
R161Q Uncertain significance 0.595 pathogenic 해석 →
R164Q Uncertain significance 0.523 ambiguous 해석 →
R164Q Conflicting classifications of pathogeni 0.523 ambiguous 해석 →
R167T Likely benign 0.631 pathogenic ⚠ 해석 →
R41G Uncertain significance 0.996 pathogenic 해석 →
S122C Uncertain significance 0.103 benign 해석 →
S136N Conflicting classifications of pathogeni 0.123 benign 해석 →
S17I Uncertain significance 0.999 pathogenic 해석 →
S17T Uncertain significance 0.582 pathogenic 해석 →
S65T Uncertain significance 0.580 pathogenic 해석 →
T124I Uncertain significance 0.226 benign 해석 →
T127R Uncertain significance 0.225 benign 해석 →
T148R Uncertain significance 0.707 pathogenic 해석 →
T158R Uncertain significance 0.426 ambiguous 해석 →
T183A Uncertain significance — 미적재 해석 →
T183K Uncertain significance — 미적재 해석 →
T183R Uncertain significance — 미적재 해석 →
T20A Uncertain significance 0.942 pathogenic 해석 →
T2P Uncertain significance 0.403 ambiguous 해석 →
T2S Uncertain significance 0.236 benign 해석 →
T50A Uncertain significance 0.367 ambiguous 해석 →
T50S Uncertain significance 0.500 ambiguous 해석 →
T87A Uncertain significance 0.068 benign 해석 →
V103F Uncertain significance 0.980 pathogenic 해석 →
V109A Uncertain significance 0.897 pathogenic 해석 →
V109E Uncertain significance 0.990 pathogenic 해석 →
V109I Uncertain significance 0.177 benign 해석 →
V125I Uncertain significance 0.151 benign 해석 →
V160G Uncertain significance 0.913 pathogenic 해석 →
V186I Uncertain significance — 미적재 해석 →
V29M Uncertain significance 0.964 pathogenic 해석 →
V7M Uncertain significance 0.994 pathogenic 해석 →
V81A Uncertain significance 0.955 pathogenic 해석 →
V8I Uncertain significance 0.424 ambiguous 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.