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

SLC24A4: AM vs ClinVar 일치도

119 변이
✓ 둘 다 병원성
2
✓ 둘 다 양성
10
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
106
AM ↔ ClinVar 비교 가능 변이 13건 중 12건 일치 / 1건 불일치 — 일치도 92.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A146V Pathogenic 0.998 pathogenic ✓ 해석 →
Q398* Pathogenic — 미적재 해석 →
R205* Pathogenic — 미적재 해석 →
R339* Pathogenic — 미적재 해석 →
S499C Pathogenic 0.992 pathogenic ✓ 해석 →
A177P Uncertain significance 0.998 pathogenic 해석 →
A28S Uncertain significance 0.133 benign 해석 →
A2G Uncertain significance 0.103 benign 해석 →
A420S Uncertain significance 0.068 benign 해석 →
A465T Uncertain significance 0.719 pathogenic 해석 →
A48S Uncertain significance 0.075 benign 해석 →
A510V Benign 0.813 pathogenic ⚠ 해석 →
A66T Uncertain significance 0.087 benign 해석 →
C600S Uncertain significance 0.203 benign 해석 →
D280N Uncertain significance 0.078 benign 해석 →
D423G Uncertain significance 0.093 benign 해석 →
D622N Uncertain significance 0.081 benign 해석 →
E273Q Uncertain significance 0.125 benign 해석 →
E372K Uncertain significance 0.102 benign 해석 →
E385K Uncertain significance 0.067 benign 해석 →
E94Q Uncertain significance 0.118 benign 해석 →
F111L Uncertain significance 0.999 pathogenic 해석 →
F121L Uncertain significance 0.993 pathogenic 해석 →
F254L Uncertain significance 0.478 ambiguous 해석 →
F452Y Uncertain significance 0.053 benign 해석 →
G148R Uncertain significance 1.000 pathogenic 해석 →
G175V Uncertain significance 1.000 pathogenic 해석 →
G193C Uncertain significance 0.609 pathogenic 해석 →
G231V Uncertain significance 0.800 pathogenic 해석 →
G24S Uncertain significance 0.130 benign 해석 →
G377R Uncertain significance 0.691 pathogenic 해석 →
G38S Uncertain significance 0.063 benign 해석 →
G575D Uncertain significance 0.985 pathogenic 해석 →
G575R Uncertain significance 0.995 pathogenic 해석 →
G5W Uncertain significance 0.289 benign 해석 →
G70R Uncertain significance 0.068 benign 해석 →
H83R Uncertain significance 0.087 benign 해석 →
I226V Uncertain significance 0.185 benign 해석 →
I346V Uncertain significance 0.142 benign 해석 →
I374T Uncertain significance 0.075 benign 해석 →
I374V Uncertain significance 0.062 benign 해석 →
I470V Uncertain significance 0.068 benign 해석 →
I477V Uncertain significance 0.066 benign 해석 →
I488F Uncertain significance 0.926 pathogenic 해석 →
I523M Uncertain significance 0.690 pathogenic 해석 →
I603V Uncertain significance 0.065 benign 해석 →
K250N Uncertain significance 0.263 benign 해석 →
K260E Likely benign 0.132 benign ✓ 해석 →
K424T Uncertain significance 0.095 benign 해석 →
K552Q Benign 0.086 benign ✓ 해석 →
L291P Uncertain significance 0.287 benign 해석 →
L32P Uncertain significance 0.679 pathogenic 해석 →
L507V Uncertain significance 0.359 ambiguous 해석 →
L574F Likely benign 0.067 benign ✓ 해석 →
L7P Uncertain significance 0.052 benign 해석 →
M543T Uncertain significance 0.421 ambiguous 해석 →
M617I Uncertain significance 0.686 pathogenic 해석 →
M617T Uncertain significance 0.176 benign 해석 →
N332S Uncertain significance 0.063 benign 해석 →
N378K Conflicting classifications of pathogeni 0.271 benign 해석 →
N443K Uncertain significance 0.813 pathogenic 해석 →
N614S Uncertain significance 0.677 pathogenic 해석 →
P124L Uncertain significance 0.416 ambiguous 해석 →
P395L Uncertain significance 0.060 benign 해석 →
P399L Uncertain significance 0.066 benign 해석 →
P401A Uncertain significance 0.060 benign 해석 →
P401L Uncertain significance 0.066 benign 해석 →
P406L Uncertain significance 0.074 benign 해석 →
P485S Uncertain significance 0.933 pathogenic 해석 →
P56Q Uncertain significance 0.079 benign 해석 →
P9Q Uncertain significance 0.091 benign 해석 →
Q194P Uncertain significance 0.880 pathogenic 해석 →
Q194R Uncertain significance 0.429 ambiguous 해석 →
R15S Uncertain significance 0.827 pathogenic 해석 →
R197H Uncertain significance 0.072 benign 해석 →
R205Q Uncertain significance 0.980 pathogenic 해석 →
R337G Uncertain significance 0.511 ambiguous 해석 →
R339G Uncertain significance 0.991 pathogenic 해석 →
R341Q Uncertain significance 0.250 benign 해석 →
R4P Uncertain significance 0.155 benign 해석 →
R53C Uncertain significance 0.091 benign 해석 →
R556W Uncertain significance 0.309 benign 해석 →
R585Q Benign 0.101 benign ✓ 해석 →
R619W Uncertain significance 0.115 benign 해석 →
R62S Uncertain significance 0.979 pathogenic 해석 →
R95Q Uncertain significance 0.756 pathogenic 해석 →
S506R Uncertain significance 1.000 pathogenic 해석 →
T143A Uncertain significance 0.990 pathogenic 해석 →
T430I Uncertain significance 0.482 ambiguous 해석 →
T78A Benign 0.372 ambiguous 해석 →
V100I Uncertain significance 0.073 benign 해석 →
V158A Uncertain significance 0.783 pathogenic 해석 →
V168F Uncertain significance 0.956 pathogenic 해석 →
V168I Uncertain significance 0.254 benign 해석 →
V216A Uncertain significance 0.192 benign 해석 →
V216M Uncertain significance 0.127 benign 해석 →
V219M Likely benign 0.120 benign ✓ 해석 →
V288M Likely benign 0.071 benign ✓ 해석 →
V305M Uncertain significance 0.427 ambiguous 해석 →
V308G Uncertain significance 0.809 pathogenic 해석 →
V417M Likely benign 0.062 benign ✓ 해석 →
V54F Uncertain significance 0.067 benign 해석 →
V591M Uncertain significance 0.422 ambiguous 해석 →
V609I Uncertain significance 0.088 benign 해석 →
V613I Benign 0.108 benign ✓ 해석 →
W473G Uncertain significance 0.932 pathogenic 해석 →
W473L Uncertain significance 0.924 pathogenic 해석 →
Y112H Uncertain significance 0.445 ambiguous 해석 →
Y222C Uncertain significance 0.144 benign 해석 →
Y279C Likely benign 0.047 benign ✓ 해석 →
Y300C Likely benign 0.084 benign ✓ 해석 →
Y469D Uncertain significance 0.996 pathogenic 해석 →
Y469S Uncertain significance 0.955 pathogenic 해석 →
Y590C Uncertain significance 0.057 benign 해석 →
E350D - 0.919 pathogenic 해석 →
E350G - 0.889 pathogenic 해석 →
E419* - — 미적재 해석 →
K552* - — 미적재 해석 →
M604I - 0.907 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.