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

BIN1: AM vs ClinVar 일치도

311 변이
✓ 둘 다 병원성
4
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
302
AM ↔ ClinVar 비교 가능 변이 9건 중 9건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
D151N Pathogenic 0.985 pathogenic ✓ 해석 →
K35N Pathogenic 0.999 pathogenic ✓ 해석 →
K575* Likely pathogenic — 미적재 해석 →
R145C Likely pathogenic 0.995 pathogenic ✓ 해석 →
R154Q Conflicting classifications of pathogeni 0.898 pathogenic 해석 →
R234C Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
W571* Pathogenic — 미적재 해석 →
A104S Uncertain significance 0.101 benign 해석 →
A104T Uncertain significance 0.094 benign 해석 →
A163G Uncertain significance 0.181 benign 해석 →
A169D Uncertain significance 0.912 pathogenic 해석 →
A182T Uncertain significance 0.639 pathogenic 해석 →
A192S Uncertain significance 0.744 pathogenic 해석 →
A205V Uncertain significance 0.964 pathogenic 해석 →
A246S Uncertain significance 0.226 benign 해석 →
A246V Uncertain significance 0.902 pathogenic 해석 →
A283T Uncertain significance 0.085 benign 해석 →
A289T Uncertain significance 0.058 benign 해석 →
A289V Uncertain significance 0.069 benign 해석 →
A2V Uncertain significance 0.921 pathogenic 해석 →
A305P Uncertain significance 0.096 benign 해석 →
A306T Uncertain significance 0.066 benign 해석 →
A319T Uncertain significance 0.066 benign 해석 →
A322V Uncertain significance 0.073 benign 해석 →
A380T Uncertain significance 0.073 benign 해석 →
A380V Uncertain significance 0.083 benign 해석 →
A388G Uncertain significance 0.096 benign 해석 →
A388T Uncertain significance 0.090 benign 해석 →
A407T Uncertain significance 0.062 benign 해석 →
A443G Uncertain significance 0.132 benign 해석 →
A443V Uncertain significance 0.108 benign 해석 →
A451D Uncertain significance 0.122 benign 해석 →
A456T Uncertain significance 0.064 benign 해석 →
A461V Uncertain significance 0.069 benign 해석 →
A465V Uncertain significance 0.075 benign 해석 →
A471V Uncertain significance 0.075 benign 해석 →
A481V Uncertain significance 0.079 benign 해석 →
A512T Uncertain significance 0.063 benign 해석 →
A527V Uncertain significance 0.350 ambiguous 해석 →
A543V Uncertain significance 0.137 benign 해석 →
A74V Uncertain significance 0.394 ambiguous 해석 →
C47R Uncertain significance 0.922 pathogenic 해석 →
D108N Uncertain significance 0.459 ambiguous 해석 →
D127G Uncertain significance 0.994 pathogenic 해석 →
D135G Uncertain significance 0.980 pathogenic 해석 →
D135N Uncertain significance 0.944 pathogenic 해석 →
D222E Uncertain significance 0.848 pathogenic 해석 →
D301G Uncertain significance 0.108 benign 해석 →
D301Y Uncertain significance 0.219 benign 해석 →
D364E Uncertain significance 0.240 benign 해석 →
D394G Uncertain significance 0.505 ambiguous 해석 →
D41H Uncertain significance 0.999 pathogenic 해석 →
D530N Uncertain significance 0.376 ambiguous 해석 →
D545E Uncertain significance 0.598 pathogenic 해석 →
D559N Uncertain significance 0.968 pathogenic 해석 →
D570E Uncertain significance 0.255 benign 해석 →
D570N Uncertain significance 0.201 benign 해석 →
D93E Uncertain significance 0.085 benign 해석 →
D93N Uncertain significance 0.127 benign 해석 →
D93Y Uncertain significance 0.449 ambiguous 해석 →
E105K Uncertain significance 0.474 ambiguous 해석 →
E105L Uncertain significance 0.837 pathogenic 해석 →
E158K Uncertain significance 0.874 pathogenic 해석 →
E250G Uncertain significance 0.583 pathogenic 해석 →
E255D Uncertain significance 0.620 pathogenic 해석 →
E255G Uncertain significance 0.903 pathogenic 해석 →
E27K Uncertain significance 0.998 pathogenic 해석 →
E309K Uncertain significance 0.177 benign 해석 →
E315K Uncertain significance 0.150 benign 해석 →
E315Q Uncertain significance 0.123 benign 해석 →
E379D Uncertain significance 0.087 benign 해석 →
E386K Uncertain significance 0.207 benign 해석 →
E3D Uncertain significance 0.209 benign 해석 →
E424G Uncertain significance 0.078 benign 해석 →
E479K Uncertain significance 0.084 benign 해석 →
E479Q Uncertain significance 0.085 benign 해석 →
E496G Uncertain significance 0.512 ambiguous 해석 →
E507V Uncertain significance 0.195 benign 해석 →
E538D Uncertain significance 0.998 pathogenic 해석 →
E557V Uncertain significance 0.908 pathogenic 해석 →
E576L Uncertain significance 0.377 ambiguous 해석 →
E576V Uncertain significance 0.185 benign 해석 →
E586K Uncertain significance 0.848 pathogenic 해석 →
E77* Uncertain significance — 미적재 해석 →
E77K Uncertain significance 0.691 pathogenic 해석 →
F362L Uncertain significance 0.956 pathogenic 해석 →
F366S Uncertain significance 0.339 benign 해석 →
F442L Uncertain significance 0.863 pathogenic 해석 →
F498L Uncertain significance 0.739 pathogenic 해석 →
F51C Uncertain significance 0.998 pathogenic 해석 →
F584S Uncertain significance 1.000 pathogenic 해석 →
G144R Uncertain significance 0.988 pathogenic 해석 →
G247D Uncertain significance 0.980 pathogenic 해석 →
G269S Conflicting classifications of pathogeni 0.053 benign 해석 →
G275R Uncertain significance 0.202 benign 해석 →
G275W Uncertain significance 0.351 ambiguous 해석 →
G320S Conflicting classifications of pathogeni 0.060 benign 해석 →
G321R Uncertain significance 0.133 benign 해석 →
G325A Uncertain significance 0.070 benign 해석 →
G382E Uncertain significance 0.200 benign 해석 →
G428S Uncertain significance 0.074 benign 해석 →
G433R Likely benign 0.063 benign ✓ 해석 →
G454E Uncertain significance 0.079 benign 해석 →
G467R Uncertain significance 0.130 benign 해석 →
G473E Uncertain significance 0.073 benign 해석 →
G504S Uncertain significance 0.110 benign 해석 →
G509S Uncertain significance 0.060 benign 해석 →
G511E Uncertain significance 0.089 benign 해석 →
G513E Uncertain significance 0.072 benign 해석 →
G513R Uncertain significance 0.121 benign 해석 →
G520R Uncertain significance 0.723 pathogenic 해석 →
G561A Uncertain significance 0.982 pathogenic 해석 →
G58V Uncertain significance 0.998 pathogenic 해석 →
G5E Uncertain significance 0.735 pathogenic 해석 →
G96S Uncertain significance 0.446 ambiguous 해석 →
H253R Uncertain significance 0.976 pathogenic 해석 →
H274R Uncertain significance 0.083 benign 해석 →
H274Y Uncertain significance 0.110 benign 해석 →
I140L Uncertain significance 0.725 pathogenic 해석 →
I14V Uncertain significance 0.385 ambiguous 해석 →
I310N Uncertain significance 0.124 benign 해석 →
I358V Uncertain significance 0.420 ambiguous 해석 →
K21Q Uncertain significance 0.919 pathogenic 해석 →
K28N Uncertain significance 0.997 pathogenic 해석 →
K346N Uncertain significance 0.968 pathogenic 해석 →
K351E Uncertain significance 0.426 ambiguous 해석 →
K351T Uncertain significance 0.447 ambiguous 해석 →
K354E Uncertain significance 0.304 benign 해석 →
K542R Conflicting classifications of pathogeni 0.092 benign 해석 →
K7R Uncertain significance 0.120 benign 해석 →
K80R Uncertain significance 0.089 benign 해석 →
L110Q Uncertain significance 0.966 pathogenic 해석 →
L160F Uncertain significance 0.855 pathogenic 해석 →
L227V Uncertain significance 0.971 pathogenic 해석 →
L359F Uncertain significance 0.206 benign 해석 →
L515F Uncertain significance 0.084 benign 해석 →
L515V Uncertain significance 0.059 benign 해석 →
L539P Uncertain significance 1.000 pathogenic 해석 →
L577V Uncertain significance 0.107 benign 해석 →
L65I Uncertain significance 0.644 pathogenic 해석 →
M126V Uncertain significance 0.361 ambiguous 해석 →
M256T Uncertain significance 0.838 pathogenic 해석 →
M4T Uncertain significance 0.259 benign 해석 →
M564I Uncertain significance 0.916 pathogenic 해석 →
M564T Uncertain significance 0.705 pathogenic 해석 →
M75T Uncertain significance 0.975 pathogenic 해석 →
N17K Uncertain significance 0.984 pathogenic 해석 →
N199I Uncertain significance 0.932 pathogenic 해석 →
N232K Uncertain significance 0.975 pathogenic 해석 →
N260I Uncertain significance 0.779 pathogenic 해석 →
N262H Uncertain significance 0.121 benign 해석 →
N262S Uncertain significance 0.073 benign 해석 →
N264S Uncertain significance 0.085 benign 해석 →
N288S Uncertain significance 0.055 benign 해석 →
N503S Uncertain significance 0.087 benign 해석 →
N52I Uncertain significance 0.550 ambiguous 해석 →
N52S Uncertain significance 0.070 benign 해석 →
N554S Uncertain significance 0.203 benign 해석 →
N83S Uncertain significance 0.064 benign 해석 →
P183L Uncertain significance 0.996 pathogenic 해석 →
P285L Uncertain significance 0.122 benign 해석 →
P285S Uncertain significance 0.111 benign 해석 →
P297T Uncertain significance 0.069 benign 해석 →
P299L Uncertain significance 0.076 benign 해석 →
P316S Uncertain significance 0.087 benign 해석 →
P318L Uncertain significance 0.058 benign 해석 →
P318S Uncertain significance 0.075 benign 해석 →
P324R Uncertain significance 0.119 benign 해석 →
P332Q Uncertain significance 0.578 pathogenic 해석 →
P340A Uncertain significance 0.211 benign 해석 →
P340S Uncertain significance 0.634 pathogenic 해석 →
P343L Uncertain significance 0.510 ambiguous 해석 →
P349L Uncertain significance 0.540 ambiguous 해석 →
P375L Uncertain significance 0.877 pathogenic 해석 →
P375R Conflicting classifications of pathogeni 0.870 pathogenic 해석 →
P381L Uncertain significance 0.136 benign 해석 →
P381S Uncertain significance 0.108 benign 해석 →
P383S Uncertain significance 0.098 benign 해석 →
P383T Uncertain significance 0.088 benign 해석 →
P399L Uncertain significance 0.090 benign 해석 →
P400T Uncertain significance 0.063 benign 해석 →
P410S Uncertain significance 0.074 benign 해석 →
P422L Uncertain significance 0.147 benign 해석 →
P431L Benign/Likely benign 0.076 benign ✓ 해석 →
P431S Uncertain significance 0.072 benign 해석 →
P435T Uncertain significance 0.062 benign 해석 →
P453L Uncertain significance 0.069 benign 해석 →
P470A Uncertain significance 0.048 benign 해석 →
P477T Uncertain significance 0.054 benign 해석 →
P518S Uncertain significance 0.887 pathogenic 해석 →
P555S Uncertain significance 0.205 benign 해석 →
P593L Uncertain significance 0.141 benign 해석 →
P95L Uncertain significance 0.111 benign 해석 →
Q121H Uncertain significance 0.599 pathogenic 해석 →
Q184E Uncertain significance 0.390 ambiguous 해석 →
Q184H Uncertain significance 0.654 pathogenic 해석 →
Q19E Uncertain significance 0.827 pathogenic 해석 →
Q19H Uncertain significance 0.967 pathogenic 해석 →
Q243E Uncertain significance 0.707 pathogenic 해석 →
Q334E Uncertain significance 0.324 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.