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

OAT: AM vs ClinVar 일치도

269 변이
✓ 둘 다 병원성
36
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
3
⚠ CV=양성 / AM=병원성
0
— AM 미적재
225
AM ↔ ClinVar 비교 가능 변이 44건 중 41건 일치 / 3건 불일치 — 일치도 93.2%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A184T Pathogenic 0.570 pathogenic ✓ 해석 →
A226V Pathogenic/Likely pathogenic 0.785 pathogenic ✓ 해석 →
A270P Pathogenic 0.926 pathogenic ✓ 해석 →
C150* Likely pathogenic — 미적재 해석 →
C253* Likely pathogenic — 미적재 해석 →
C394R Uncertain significance 0.988 pathogenic 해석 →
C394Y Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
C93F Likely pathogenic 0.641 pathogenic ✓ 해석 →
D195Y Conflicting classifications of pathogeni 0.140 benign 해석 →
E318K Pathogenic/Likely pathogenic 0.715 pathogenic ✓ 해석 →
E384* Pathogenic — 미적재 해석 →
E422* Likely pathogenic — 미적재 해석 →
G121D Likely pathogenic 0.936 pathogenic ✓ 해석 →
G142E Likely pathogenic 0.992 pathogenic ✓ 해석 →
G17* Likely pathogenic — 미적재 해석 →
G237D Likely pathogenic 0.978 pathogenic ✓ 해석 →
G248* Pathogenic/Likely pathogenic — 미적재 해석 →
G297C Likely pathogenic 0.900 pathogenic ✓ 해석 →
G353D Pathogenic/Likely pathogenic 0.980 pathogenic ✓ 해석 →
G373E Uncertain significance 0.987 pathogenic 해석 →
G375A Likely pathogenic 0.943 pathogenic ✓ 해석 →
G401* Pathogenic — 미적재 해석 →
G51D Pathogenic/Likely pathogenic 0.969 pathogenic ✓ 해석 →
G91E Conflicting classifications of pathogeni 0.990 pathogenic 해석 →
H319Y Pathogenic 0.875 pathogenic ✓ 해석 →
I412T Likely pathogenic 0.987 pathogenic ✓ 해석 →
I436N Pathogenic/Likely pathogenic 0.950 pathogenic ✓ 해석 →
K292R Likely pathogenic 0.734 pathogenic ✓ 해석 →
L294H Pathogenic 0.986 pathogenic ✓ 해석 →
L402P Pathogenic 0.995 pathogenic ✓ 해석 →
L437F Conflicting classifications of pathogeni 0.102 benign 해석 →
M139R Conflicting classifications of pathogeni 0.942 pathogenic 해석 →
M1I Pathogenic 0.179 benign ⚠ 해석 →
M1T Likely pathogenic 0.210 benign ⚠ 해석 →
M1V Pathogenic 0.061 benign ⚠ 해석 →
N326K Likely pathogenic 0.988 pathogenic ✓ 해석 →
N54K Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
N89K Likely pathogenic 0.981 pathogenic ✓ 해석 →
P199Q Pathogenic/Likely pathogenic 0.933 pathogenic ✓ 해석 →
P241L Pathogenic/Likely pathogenic 0.800 pathogenic ✓ 해석 →
P300L Pathogenic 0.873 pathogenic ✓ 해석 →
P327R Likely pathogenic 0.974 pathogenic ✓ 해석 →
P417L Pathogenic/Likely pathogenic 0.886 pathogenic ✓ 해석 →
P417S Conflicting classifications of pathogeni 0.598 pathogenic 해석 →
Q104R Likely pathogenic 0.801 pathogenic ✓ 해석 →
Q233* Pathogenic — 미적재 해석 →
Q233R Conflicting classifications of pathogeni 0.876 pathogenic 해석 →
Q266* Pathogenic/Likely pathogenic — 미적재 해석 →
Q90E Uncertain significance 0.431 ambiguous 해석 →
R154H Conflicting classifications of pathogeni 0.803 pathogenic 해석 →
R154L Likely pathogenic 0.899 pathogenic ✓ 해석 →
R180T Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
R250* Pathogenic — 미적재 해석 →
R250P Pathogenic 0.973 pathogenic ✓ 해석 →
R271K Pathogenic/Likely pathogenic 0.890 pathogenic ✓ 해석 →
R331* Pathogenic — 미적재 해석 →
R396* Pathogenic/Likely pathogenic — 미적재 해석 →
R398* Pathogenic — 미적재 해석 →
R426* Pathogenic — 미적재 해석 →
T181M Pathogenic 0.830 pathogenic ✓ 해석 →
T267I Pathogenic/Likely pathogenic 0.908 pathogenic ✓ 해석 →
V332M Pathogenic/Likely pathogenic 0.427 ambiguous 해석 →
W156* Pathogenic — 미적재 해석 →
W178* Pathogenic — 미적재 해석 →
W178* Pathogenic/Likely pathogenic — 미적재 해석 →
W275* Pathogenic/Likely pathogenic — 미적재 해석 →
W388* Pathogenic — 미적재 해석 →
W388* Pathogenic/Likely pathogenic — 미적재 해석 →
W391* Pathogenic/Likely pathogenic — 미적재 해석 →
Y158S Likely pathogenic 0.685 pathogenic ✓ 해석 →
Y166* Pathogenic — 미적재 해석 →
Y194* Likely pathogenic — 미적재 해석 →
Y194* Likely pathogenic — 미적재 해석 →
Y209* Likely pathogenic — 미적재 해석 →
Y209* Pathogenic — 미적재 해석 →
Y245C Pathogenic 0.783 pathogenic ✓ 해석 →
Y299* Pathogenic/Likely pathogenic — 미적재 해석 →
Y299* Pathogenic/Likely pathogenic — 미적재 해석 →
Y323* Likely pathogenic — 미적재 해석 →
Y323* Likely pathogenic — 미적재 해석 →
Y55H Pathogenic 0.991 pathogenic ✓ 해석 →
Y78* Likely pathogenic — 미적재 해석 →
*440W Uncertain significance — 미적재 해석 →
A12S Uncertain significance 0.078 benign 해석 →
A173T Uncertain significance 0.204 benign 해석 →
A214S Uncertain significance 0.098 benign 해석 →
A226T Uncertain significance 0.684 pathogenic 해석 →
A262D Uncertain significance 0.949 pathogenic 해석 →
A270V Uncertain significance 0.617 pathogenic 해석 →
A333T Uncertain significance 0.485 ambiguous 해석 →
A335S Uncertain significance 0.118 benign 해석 →
A346T Uncertain significance 0.120 benign 해석 →
A349E Uncertain significance 0.970 pathogenic 해석 →
A349P Uncertain significance 0.990 pathogenic 해석 →
A379T Uncertain significance 0.857 pathogenic 해석 →
A415V Uncertain significance 0.614 pathogenic 해석 →
A61S Uncertain significance 0.261 benign 해석 →
C253G Uncertain significance 0.732 pathogenic 해석 →
D195N Uncertain significance 0.084 benign 해석 →
D205A Uncertain significance 0.124 benign 해석 →
D205G Uncertain significance 0.159 benign 해석 →
D205N Uncertain significance 0.093 benign 해석 →
D205T Uncertain significance 0.118 benign 해석 →
D211E Uncertain significance 0.485 ambiguous 해석 →
D263V Uncertain significance 0.993 pathogenic 해석 →
D308N Uncertain significance 0.104 benign 해석 →
D387G Uncertain significance 0.097 benign 해석 →
D387H Uncertain significance 0.176 benign 해석 →
D389G Uncertain significance 0.331 benign 해석 →
D389Y Uncertain significance 0.429 ambiguous 해석 →
D410N Uncertain significance 0.117 benign 해석 →
D41E Likely benign 0.065 benign ✓ 해석 →
D42N Uncertain significance 0.078 benign 해석 →
D80E Uncertain significance 0.988 pathogenic 해석 →
E122K Uncertain significance 0.103 benign 해석 →
E264D Uncertain significance 0.948 pathogenic 해석 →
E342K Uncertain significance 0.105 benign 해석 →
E343Q Uncertain significance 0.350 ambiguous 해석 →
E347K Uncertain significance 0.065 benign 해석 →
E359G Uncertain significance 0.166 benign 해석 →
E359V Uncertain significance 0.450 ambiguous 해석 →
E422K Uncertain significance 0.126 benign 해석 →
E424D Uncertain significance 0.307 benign 해석 →
E427K Uncertain significance 0.126 benign 해석 →
E63G Uncertain significance 0.227 benign 해석 →
F131L Uncertain significance 0.817 pathogenic 해석 →
F172S Uncertain significance 0.921 pathogenic 해석 →
F2L Uncertain significance 0.279 benign 해석 →
G146V Uncertain significance 0.444 ambiguous 해석 →
G157S Uncertain significance 0.199 benign 해석 →
G17R Uncertain significance 0.135 benign 해석 →
G17R Uncertain significance 0.135 benign 해석 →
G296R Uncertain significance 0.967 pathogenic 해석 →
G324S Uncertain significance 0.775 pathogenic 해석 →
G329A Uncertain significance 0.084 benign 해석 →
G36A Conflicting classifications of pathogeni 0.084 benign 해석 →
H134R Uncertain significance 0.077 benign 해석 →
H319R Uncertain significance 0.975 pathogenic 해석 →
H408D Uncertain significance 0.912 pathogenic 해석 →
H53Q Uncertain significance 0.642 pathogenic 해석 →
H53R Uncertain significance 0.316 benign 해석 →
H56Y Uncertain significance 0.314 benign 해석 →
H94Y Uncertain significance 0.630 pathogenic 해석 →
I207F Uncertain significance 0.460 ambiguous 해석 →
I207V Uncertain significance 0.084 benign 해석 →
I287T Uncertain significance 0.423 ambiguous 해석 →
I380V Likely benign 0.057 benign ✓ 해석 →
I411V Uncertain significance 0.110 benign 해석 →
I429T Uncertain significance 0.080 benign 해석 →
I429V Uncertain significance 0.052 benign 해석 →
I431V Uncertain significance 0.160 benign 해석 →
I432F Uncertain significance 0.455 ambiguous 해석 →
I43S Uncertain significance 0.696 pathogenic 해석 →
I68V Uncertain significance 0.069 benign 해석 →
K135N Uncertain significance 0.948 pathogenic 해석 →
K135R Uncertain significance 0.090 benign 해석 →
K161N Uncertain significance 0.922 pathogenic 해석 →
K165T Uncertain significance 0.156 benign 해석 →
K167R Uncertain significance 0.078 benign 해석 →
K167T Uncertain significance 0.151 benign 해석 →
K32N Uncertain significance 0.161 benign 해석 →
K351N Uncertain significance 0.169 benign 해석 →
K362E Uncertain significance 0.130 benign 해석 →
K421E Uncertain significance 0.102 benign 해석 →
K434E Uncertain significance 0.109 benign 해석 →
K434T Uncertain significance 0.149 benign 해석 →
L182F Uncertain significance 0.356 ambiguous 해석 →
L215P Uncertain significance 0.980 pathogenic 해석 →
L259V Uncertain significance 0.276 benign 해석 →
L289F Uncertain significance 0.620 pathogenic 해석 →
L312M Uncertain significance 0.109 benign 해석 →
L328V Uncertain significance 0.078 benign 해석 →
L352F Uncertain significance 0.277 benign 해석 →
L352S Uncertain significance 0.291 benign 해석 →
L356F Uncertain significance 0.079 benign 해석 →
L395R Uncertain significance 0.340 benign 해석 →
L403P Uncertain significance 0.991 pathogenic 해석 →
L437F Benign 0.102 benign ✓ 해석 →
L62P Uncertain significance 0.875 pathogenic 해석 →
L82R Uncertain significance 0.973 pathogenic 해석 →
M201I Uncertain significance 0.497 ambiguous 해석 →
M247T Uncertain significance 0.055 benign 해석 →
N117D Uncertain significance 0.660 pathogenic 해석 →
N118D Likely benign 0.053 benign ✓ 해석 →
N118Y Uncertain significance 0.242 benign 해석 →
N132S Uncertain significance 0.066 benign 해석 →
N282H Uncertain significance 0.089 benign 해석 →
N282S Uncertain significance 0.082 benign 해석 →
N326S Uncertain significance 0.149 benign 해석 →
N358S Uncertain significance 0.063 benign 해석 →
N400Y Uncertain significance 0.138 benign 해석 →
N89S Uncertain significance 0.057 benign 해석 →
N99S Uncertain significance 0.057 benign 해석 →
P138L Uncertain significance 0.457 ambiguous 해석 →
P202L Uncertain significance 0.228 benign 해석 →
P202S Uncertain significance 0.212 benign 해석 →
P202T Uncertain significance 0.204 benign 해석 →
P241R Uncertain significance 0.964 pathogenic 해석 →
P285S Uncertain significance 0.843 pathogenic 해석 →
P300R Uncertain significance 0.980 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.