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

TCF7L2: AM vs ClinVar 일치도

119 변이
✓ 둘 다 병원성
4
✓ 둘 다 양성
13
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
102
AM ↔ ClinVar 비교 가능 변이 17건 중 17건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A419V Likely pathogenic 0.998 pathogenic ✓ 해석 →
E394* Pathogenic — 미적재 해석 →
M411V Likely pathogenic 0.918 pathogenic ✓ 해석 →
P353L Likely pathogenic 1.000 pathogenic ✓ 해석 →
Q382* Pathogenic — 미적재 해석 →
R407* Pathogenic — 미적재 해석 →
R420W Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
A139V Uncertain significance 0.112 benign 해석 →
A163S Uncertain significance 0.085 benign 해석 →
A524T Benign 0.062 benign ✓ 해석 →
A544T Uncertain significance 0.077 benign 해석 →
A554V Uncertain significance 0.102 benign 해석 →
A572T Uncertain significance 0.072 benign 해석 →
A579S Uncertain significance 0.074 benign 해석 →
D160E Uncertain significance 0.472 ambiguous 해석 →
D43N Uncertain significance 0.931 pathogenic 해석 →
E28D Likely benign 0.223 benign ✓ 해석 →
E28Q Uncertain significance 0.482 ambiguous 해석 →
E33G Likely benign 0.204 benign ✓ 해석 →
E395K Uncertain significance 0.999 pathogenic 해석 →
E401D Uncertain significance 0.982 pathogenic 해석 →
E63V Uncertain significance 0.911 pathogenic 해석 →
G133S Uncertain significance 0.079 benign 해석 →
G308S Uncertain significance 0.646 pathogenic 해석 →
G416S Uncertain significance 0.421 ambiguous 해석 →
G518C Uncertain significance 0.100 benign 해석 →
G518V Uncertain significance 0.078 benign 해석 →
G605R Uncertain significance 0.251 benign 해석 →
G9R Uncertain significance 0.938 pathogenic 해석 →
H196R Uncertain significance 0.907 pathogenic 해석 →
H296D Uncertain significance 0.948 pathogenic 해석 →
H545R Uncertain significance 0.109 benign 해석 →
H545Y Uncertain significance 0.133 benign 해석 →
H562R Uncertain significance 0.078 benign 해석 →
I106F Uncertain significance 0.516 ambiguous 해석 →
I183V Likely benign 0.193 benign ✓ 해석 →
I314V Uncertain significance 0.443 ambiguous 해석 →
I589T Uncertain significance 0.087 benign 해석 →
K173N Uncertain significance 0.966 pathogenic 해석 →
K340E Uncertain significance 0.779 pathogenic 해석 →
K462E Uncertain significance 0.994 pathogenic 해석 →
K525Q Uncertain significance 0.094 benign 해석 →
K539R Uncertain significance 0.135 benign 해석 →
K96N Uncertain significance 0.973 pathogenic 해석 →
L354F Uncertain significance 0.999 pathogenic 해석 →
L402M Uncertain significance 0.845 pathogenic 해석 →
L497V Uncertain significance 0.062 benign 해석 →
L516P Uncertain significance 0.083 benign 해석 →
L517P Uncertain significance 0.064 benign 해석 →
L555F Uncertain significance 0.091 benign 해석 →
L567R Uncertain significance 0.122 benign 해석 →
M549T Uncertain significance 0.140 benign 해석 →
N208S Uncertain significance 0.188 benign 해석 →
N381H Uncertain significance 0.999 pathogenic 해석 →
N50K Uncertain significance 0.991 pathogenic 해석 →
N515H Likely benign 0.056 benign ✓ 해석 →
N515K Uncertain significance 0.168 benign 해석 →
P189S Uncertain significance 0.916 pathogenic 해석 →
P213L Uncertain significance 0.800 pathogenic 해석 →
P317T Uncertain significance 0.561 ambiguous 해석 →
P479S Uncertain significance 0.991 pathogenic 해석 →
P500T Benign 0.112 benign ✓ 해석 →
P512A Benign 0.049 benign ✓ 해석 →
P512H Benign 0.101 benign ✓ 해석 →
P512R Likely benign 0.164 benign ✓ 해석 →
P512T Uncertain significance 0.058 benign 해석 →
P514L Uncertain significance 0.117 benign 해석 →
P540L Uncertain significance 0.268 benign 해석 →
P540S Uncertain significance 0.159 benign 해석 →
P552S Uncertain significance 0.068 benign 해석 →
P569R Uncertain significance 0.121 benign 해석 →
P577A Uncertain significance 0.051 benign 해석 →
P582T Likely benign 0.060 benign ✓ 해석 →
P585L Uncertain significance 0.080 benign 해석 →
P592S Uncertain significance 0.108 benign 해석 →
P610L Uncertain significance 0.512 ambiguous 해석 →
P99L Uncertain significance 0.209 benign 해석 →
P99Q Uncertain significance 0.243 benign 해석 →
Q408* Uncertain significance — 미적재 해석 →
Q527* Uncertain significance — 미적재 해석 →
Q527E Uncertain significance 0.081 benign 해석 →
Q607K Uncertain significance 0.139 benign 해석 →
R176Q Uncertain significance 0.566 pathogenic 해석 →
R232Q Uncertain significance 0.704 pathogenic 해석 →
R386W Uncertain significance 0.999 pathogenic 해석 →
R522Q Likely benign 0.054 benign ✓ 해석 →
R67Q Uncertain significance 0.755 pathogenic 해석 →
S134G Uncertain significance 0.079 benign 해석 →
S207R Uncertain significance 0.997 pathogenic 해석 →
S207T Uncertain significance 0.586 pathogenic 해석 →
S323L Uncertain significance 0.257 benign 해석 →
S47P Uncertain significance 0.996 pathogenic 해석 →
S513T Uncertain significance 0.090 benign 해석 →
S519C Uncertain significance 0.093 benign 해석 →
S519F Uncertain significance 0.099 benign 해석 →
S519P Uncertain significance 0.076 benign 해석 →
S526P Uncertain significance 0.054 benign 해석 →
S547P Uncertain significance 0.063 benign 해석 →
S588P Uncertain significance 0.078 benign 해석 →
S593L Uncertain significance 0.104 benign 해석 →
S593W Uncertain significance 0.344 ambiguous 해석 →
S599C Likely benign 0.105 benign ✓ 해석 →
S602P Benign 0.089 benign ✓ 해석 →
S617P Uncertain significance 0.122 benign 해석 →
S62Y Uncertain significance 0.914 pathogenic 해석 →
T142M Uncertain significance 0.110 benign 해석 →
T205M Uncertain significance 0.824 pathogenic 해석 →
T212A Uncertain significance 0.289 benign 해석 →
T228A Uncertain significance 0.801 pathogenic 해석 →
T306S Uncertain significance 0.149 benign 해석 →
T531N Uncertain significance 0.134 benign 해석 →
T606A Uncertain significance 0.067 benign 해석 →
V487I Uncertain significance 0.074 benign 해석 →
V614A Uncertain significance 0.863 pathogenic 해석 →
W259C Uncertain significance 0.990 pathogenic 해석 →
Y137H Uncertain significance 0.166 benign 해석 →
Y423C Uncertain significance 0.998 pathogenic 해석 →
R431S - 0.999 pathogenic 해석 →
S418Y - 0.998 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.