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

HRAS: AM vs ClinVar 일치도

302 변이
✓ 둘 다 병원성
34
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
262
AM ↔ ClinVar 비교 가능 변이 40건 중 39건 일치 / 1건 불일치 — 일치도 97.5%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A130P Conflicting classifications of pathogeni 0.972 pathogenic 해석 →
A146T Pathogenic 0.993 pathogenic ✓ 해석 →
A146V Likely pathogenic 0.995 pathogenic ✓ 해석 →
A59G Pathogenic 0.989 pathogenic ✓ 해석 →
A59L Likely pathogenic 0.996 pathogenic ✓ 해석 →
A59T Likely pathogenic 0.997 pathogenic ✓ 해석 →
E49K Uncertain significance 0.744 pathogenic 해석 →
E63K Pathogenic 0.998 pathogenic ✓ 해석 →
F156L Pathogenic 0.999 pathogenic ✓ 해석 →
F156L Pathogenic 0.999 pathogenic ✓ 해석 →
G12A Pathogenic 0.965 pathogenic ✓ 해석 →
G12A Pathogenic 0.965 pathogenic ✓ 해석 →
G12C Pathogenic 0.998 pathogenic ✓ 해석 →
G12D Pathogenic 0.998 pathogenic ✓ 해석 →
G12E Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G12R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G12S Pathogenic 0.989 pathogenic ✓ 해석 →
G12V Pathogenic 0.995 pathogenic ✓ 해석 →
G12V Pathogenic 0.995 pathogenic ✓ 해석 →
G12V Pathogenic 0.995 pathogenic ✓ 해석 →
G13C Pathogenic 0.993 pathogenic ✓ 해석 →
G13D Pathogenic 0.999 pathogenic ✓ 해석 →
G13R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G13S Likely pathogenic 0.979 pathogenic ✓ 해석 →
G13V Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G60D Pathogenic 1.000 pathogenic ✓ 해석 →
G60S Likely pathogenic 0.999 pathogenic ✓ 해석 →
G60V Pathogenic 1.000 pathogenic ✓ 해석 →
I46T Conflicting classifications of pathogeni 0.983 pathogenic 해석 →
K117R Pathogenic 0.878 pathogenic ✓ 해석 →
L23R Likely pathogenic 0.989 pathogenic ✓ 해석 →
Q22K Likely pathogenic 0.991 pathogenic ✓ 해석 →
Q61H Likely pathogenic 0.999 pathogenic ✓ 해석 →
Q61K Pathogenic/Likely pathogenic 0.988 pathogenic ✓ 해석 →
Q61L Uncertain significance 0.978 pathogenic 해석 →
Q61R Likely pathogenic 0.991 pathogenic ✓ 해석 →
R68W Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
S89C Likely pathogenic 0.958 pathogenic ✓ 해석 →
T58I Pathogenic 1.000 pathogenic ✓ 해석 →
A11T Uncertain significance 0.779 pathogenic 해석 →
A121D Uncertain significance 0.324 benign 해석 →
A121T Conflicting classifications of pathogeni 0.083 benign 해석 →
A121V Uncertain significance 0.109 benign 해석 →
A122T Uncertain significance 0.074 benign 해석 →
A122V Uncertain significance 0.102 benign 해석 →
A130V Uncertain significance 0.696 pathogenic 해석 →
A134T Uncertain significance 0.959 pathogenic 해석 →
A134V Uncertain significance 0.964 pathogenic 해석 →
A155S Uncertain significance 0.414 ambiguous 해석 →
A155T Uncertain significance 0.777 pathogenic 해석 →
A155V Uncertain significance 0.866 pathogenic 해석 →
A59S Uncertain significance 0.953 pathogenic 해석 →
A66V Uncertain significance 0.985 pathogenic 해석 →
A83T Uncertain significance 0.958 pathogenic 해석 →
C181Y Uncertain significance 0.148 benign 해석 →
C184G Uncertain significance 0.146 benign 해석 →
C184S Uncertain significance 0.232 benign 해석 →
C184Y Uncertain significance 0.301 benign 해석 →
C51R Uncertain significance 0.998 pathogenic 해석 →
C80S Uncertain significance 0.966 pathogenic 해석 →
D105H Uncertain significance 0.977 pathogenic 해석 →
D105N Uncertain significance 0.797 pathogenic 해석 →
D107N Uncertain significance 0.243 benign 해석 →
D108G Uncertain significance 0.382 ambiguous 해석 →
D132G Uncertain significance 0.261 benign 해석 →
D132N Conflicting classifications of pathogeni 0.163 benign 해석 →
D154N Conflicting classifications of pathogeni 0.314 benign 해석 →
D154V Uncertain significance 0.524 ambiguous 해석 →
D154Y Likely benign 0.669 pathogenic ⚠ 해석 →
D30N Uncertain significance 0.828 pathogenic 해석 →
D33E Uncertain significance 0.996 pathogenic 해석 →
D33N Uncertain significance 0.998 pathogenic 해석 →
D33Y Uncertain significance 0.997 pathogenic 해석 →
D47N Uncertain significance 0.960 pathogenic 해석 →
D57A Uncertain significance 1.000 pathogenic 해석 →
D92A Uncertain significance 0.844 pathogenic 해석 →
D92N Uncertain significance 0.729 pathogenic 해석 →
E126* Uncertain significance — 미적재 해석 →
E126G Uncertain significance 0.157 benign 해석 →
E126Q Uncertain significance 0.210 benign 해석 →
E143D Uncertain significance 0.960 pathogenic 해석 →
E143K Uncertain significance 0.981 pathogenic 해석 →
E143Q Uncertain significance 0.834 pathogenic 해석 →
E153* Uncertain significance — 미적재 해석 →
E162D Uncertain significance 0.839 pathogenic 해석 →
E162K Uncertain significance 0.900 pathogenic 해석 →
E162Q Uncertain significance 0.465 ambiguous 해석 →
E31Q Uncertain significance 0.921 pathogenic 해석 →
E49G Uncertain significance 0.846 pathogenic 해석 →
E49Q Uncertain significance 0.424 ambiguous 해석 →
E63D Uncertain significance 0.965 pathogenic 해석 →
E91* Uncertain significance — 미적재 해석 →
E98* Uncertain significance — 미적재 해석 →
E98K Uncertain significance 0.865 pathogenic 해석 →
F82C Uncertain significance 0.995 pathogenic 해석 →
F82S Uncertain significance 0.999 pathogenic 해석 →
F90S Uncertain significance 0.994 pathogenic 해석 →
G115R Uncertain significance 0.999 pathogenic 해석 →
G138D Uncertain significance 0.350 ambiguous 해석 →
G138R Uncertain significance 0.441 ambiguous 해석 →
G138S Uncertain significance 0.140 benign 해석 →
G138V Uncertain significance 0.732 pathogenic 해석 →
G13P Uncertain significance 1.000 pathogenic 해석 →
G151A Uncertain significance 0.632 pathogenic 해석 →
G151R Uncertain significance 0.847 pathogenic 해석 →
G151R Uncertain significance 0.847 pathogenic 해석 →
G15A Uncertain significance 0.999 pathogenic 해석 →
G15D Uncertain significance 1.000 pathogenic 해석 →
G15V Uncertain significance 1.000 pathogenic 해석 →
G161R Conflicting classifications of pathogeni — 미적재 해석 →
G178R Uncertain significance 0.128 benign 해석 →
G178S Uncertain significance 0.072 benign 해석 →
G180D Uncertain significance 0.097 benign 해석 →
G180R Uncertain significance 0.143 benign 해석 →
G180S Uncertain significance 0.074 benign 해석 →
G60R Uncertain significance 1.000 pathogenic 해석 →
G75R Uncertain significance 0.999 pathogenic 해석 →
G77D Uncertain significance 1.000 pathogenic 해석 →
H166Q Likely benign 0.284 benign ✓ 해석 →
H166Q Uncertain significance 0.284 benign 해석 →
H166R Uncertain significance 0.250 benign 해석 →
H166Y Uncertain significance 0.081 benign 해석 →
H94Q Uncertain significance 0.158 benign 해석 →
H94Y Uncertain significance 0.156 benign 해석 →
I139F Uncertain significance 0.722 pathogenic 해석 →
I142F Uncertain significance 0.434 ambiguous 해석 →
I142L Uncertain significance 0.216 benign 해석 →
I142M Uncertain significance 0.194 benign 해석 →
I142T Uncertain significance 0.494 ambiguous 해석 →
I142V Uncertain significance 0.071 benign 해석 →
I163F Uncertain significance 0.971 pathogenic 해석 →
I163M Uncertain significance 0.759 pathogenic 해석 →
I36T Uncertain significance 0.998 pathogenic 해석 →
I36V Uncertain significance 0.847 pathogenic 해석 →
I46M Uncertain significance 0.839 pathogenic 해석 →
I46V Uncertain significance 0.325 benign 해석 →
I84V Uncertain significance 0.096 benign 해석 →
I93T Uncertain significance 0.832 pathogenic 해석 →
I93V Uncertain significance 0.136 benign 해석 →
K101I Uncertain significance 0.686 pathogenic 해석 →
K101R Conflicting classifications of pathogeni 0.090 benign 해석 →
K167R Uncertain significance 0.076 benign 해석 →
K16N Uncertain significance 1.000 pathogenic 해석 →
K170* Uncertain significance — 미적재 해석 →
K170R Uncertain significance 0.081 benign 해석 →
K88* Uncertain significance — 미적재 해석 →
K88E Uncertain significance 0.748 pathogenic 해석 →
K88R Uncertain significance 0.100 benign 해석 →
L120V Uncertain significance 0.474 ambiguous 해석 →
L133F Conflicting classifications of pathogeni 0.500 ambiguous 해석 →
L133H Uncertain significance 0.780 pathogenic 해석 →
L159F Uncertain significance 0.997 pathogenic 해석 →
L159S Uncertain significance 0.994 pathogenic 해석 →
L168P Uncertain significance 0.537 ambiguous 해석 →
L171V Uncertain significance 0.072 benign 해석 →
L19M Uncertain significance 0.786 pathogenic 해석 →
L53* Uncertain significance — 미적재 해석 →
L53W Uncertain significance 0.998 pathogenic 해석 →
L79Q Uncertain significance 0.998 pathogenic 해석 →
M111L Uncertain significance 0.417 ambiguous 해석 →
M111T Uncertain significance 0.879 pathogenic 해석 →
M111V Uncertain significance 0.217 benign 해석 →
M182I Conflicting classifications of pathogeni 0.138 benign 해석 →
M182L Uncertain significance 0.076 benign 해석 →
M182T Uncertain significance 0.081 benign 해석 →
M182V Uncertain significance 0.060 benign 해석 →
M67I Uncertain significance 0.997 pathogenic 해석 →
M67L Uncertain significance 0.751 pathogenic 해석 →
M72L Uncertain significance 0.870 pathogenic 해석 →
M72T Uncertain significance 0.999 pathogenic 해석 →
N116S Uncertain significance 0.952 pathogenic 해석 →
N172K Uncertain significance 0.163 benign 해석 →
N172S Uncertain significance 0.069 benign 해석 →
N85D Uncertain significance 0.472 ambiguous 해석 →
N86T Benign 0.352 ambiguous 해석 →
P110L Uncertain significance 0.991 pathogenic 해석 →
P140L Uncertain significance 0.731 pathogenic 해석 →
P140S Conflicting classifications of pathogeni 0.518 ambiguous 해석 →
P167L Likely benign — 미적재 해석 →
P173L Uncertain significance 0.082 benign 해석 →
P173R Likely benign 0.093 benign ✓ 해석 →
P173S Uncertain significance 0.079 benign 해석 →
P174A Uncertain significance 0.050 benign 해석 →
P174H Uncertain significance 0.091 benign 해석 →
P174S Benign 0.068 benign ✓ 해석 →
P179A Likely benign 0.057 benign ✓ 해석 →
P179L Uncertain significance 0.084 benign 해석 →
P179S Uncertain significance 0.066 benign 해석 →
P34L Uncertain significance 0.999 pathogenic 해석 →
P34S Uncertain significance 0.998 pathogenic 해석 →
Q129R Conflicting classifications of pathogeni 0.206 benign 해석 →
Q131* Uncertain significance — 미적재 해석 →
Q131E Uncertain significance 0.105 benign 해석 →
Q150* Uncertain significance — 미적재 해석 →
Q165K Uncertain significance 0.120 benign 해석 →
Q22* Likely benign — 미적재 해석 →
Q25R Uncertain significance 0.939 pathogenic 해석 →
Q43* Uncertain significance — 미적재 해석 →
Q43H Uncertain significance 0.972 pathogenic 해석 →
Q95H Uncertain significance 0.192 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.