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

SLC19A1: AM vs ClinVar 일치도

139 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
13
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
125
AM ↔ ClinVar 비교 가능 변이 14건 중 14건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
G348R Pathogenic 0.917 pathogenic ✓ 해석 →
H27R drug response 0.059 benign 해석 →
A158T Uncertain significance 0.089 benign 해석 →
A200T Uncertain significance 0.091 benign 해석 →
A252V Likely benign 0.071 benign ✓ 해석 →
A279T Uncertain significance 0.163 benign 해석 →
A279V Uncertain significance 0.363 ambiguous 해석 →
A302V Uncertain significance 0.105 benign 해석 →
A309V Uncertain significance 0.161 benign 해석 →
A324V Uncertain significance 0.407 ambiguous 해석 →
A332V Likely benign 0.094 benign ✓ 해석 →
A340V Uncertain significance 0.564 pathogenic 해석 →
A368V Uncertain significance 0.185 benign 해석 →
A39V Uncertain significance 0.124 benign 해석 →
A469S Uncertain significance 0.083 benign 해석 →
A469V Benign 0.084 benign ✓ 해석 →
A483V Uncertain significance 0.072 benign 해석 →
A551T Uncertain significance 0.068 benign 해석 →
A7V Uncertain significance 0.084 benign 해석 →
C458G Benign 0.080 benign ✓ 해석 →
D506V Uncertain significance 0.129 benign 해석 →
D522N Likely benign 0.094 benign ✓ 해석 →
D56H Benign/Likely benign 0.124 benign ✓ 해석 →
D56N Uncertain significance 0.108 benign 해석 →
D584N Uncertain significance 0.074 benign 해석 →
E221G Likely benign 0.056 benign ✓ 해석 →
E228D Likely benign 0.091 benign ✓ 해석 →
E505G Uncertain significance 0.077 benign 해석 →
E62K Uncertain significance 0.069 benign 해석 →
F103L Uncertain significance 0.770 pathogenic 해석 →
F212L Uncertain significance 0.971 pathogenic 해석 →
G154S Uncertain significance 0.084 benign 해석 →
G178S Likely benign 0.186 benign ✓ 해석 →
G17E Uncertain significance 0.076 benign 해석 →
G236R Uncertain significance 0.101 benign 해석 →
G572R Uncertain significance 0.086 benign 해석 →
G585C Uncertain significance 0.082 benign 해석 →
G585S Uncertain significance 0.063 benign 해석 →
H569Y Uncertain significance 0.073 benign 해석 →
I362V Uncertain significance 0.177 benign 해석 →
I382N Uncertain significance 0.959 pathogenic 해석 →
I417T Benign 0.095 benign ✓ 해석 →
I445M Uncertain significance 0.121 benign 해석 →
K336Q Uncertain significance 0.248 benign 해석 →
L101F Uncertain significance 0.102 benign 해석 →
L161P Uncertain significance 0.968 pathogenic 해석 →
L227Q Uncertain significance 0.153 benign 해석 →
L22F Uncertain significance 0.099 benign 해석 →
L255P Uncertain significance 0.512 ambiguous 해석 →
L338F Benign 0.173 benign ✓ 해석 →
L426F Uncertain significance 0.224 benign 해석 →
L455P Uncertain significance 0.250 benign 해석 →
L472P Uncertain significance 0.071 benign 해석 →
M122V Uncertain significance 0.413 ambiguous 해석 →
M1V Uncertain significance 0.128 benign 해석 →
N277S Uncertain significance 0.054 benign 해석 →
P18R Uncertain significance 0.069 benign 해석 →
P234R Uncertain significance 0.070 benign 해석 →
P359L Uncertain significance 0.134 benign 해석 →
P427L Uncertain significance 0.156 benign 해석 →
P464L Uncertain significance 0.075 benign 해석 →
P468L Uncertain significance 0.065 benign 해석 →
P500L Uncertain significance 0.065 benign 해석 →
P501L Uncertain significance 0.070 benign 해석 →
P501R Uncertain significance 0.062 benign 해석 →
P501S Uncertain significance 0.075 benign 해석 →
P529L Uncertain significance 0.084 benign 해석 →
P539S Uncertain significance 0.074 benign 해석 →
P545S Uncertain significance 0.062 benign 해석 →
P556R Uncertain significance 0.065 benign 해석 →
P94L Uncertain significance 0.435 ambiguous 해석 →
Q11E Uncertain significance 0.062 benign 해석 →
Q266H Uncertain significance 0.270 benign 해석 →
Q386R Uncertain significance 0.226 benign 해석 →
Q482E Uncertain significance 0.066 benign 해석 →
Q518H Uncertain significance 0.147 benign 해석 →
Q520R Uncertain significance 0.076 benign 해석 →
Q587P Uncertain significance 0.069 benign 해석 →
R148H Uncertain significance 0.084 benign 해석 →
R148L Uncertain significance 0.136 benign 해석 →
R208G Uncertain significance 0.249 benign 해석 →
R229S Uncertain significance 0.209 benign 해석 →
R23W Uncertain significance 0.096 benign 해석 →
R256Q Uncertain significance 0.100 benign 해석 →
R256W Uncertain significance 0.110 benign 해석 →
R263Q Uncertain significance 0.090 benign 해석 →
R263W Uncertain significance 0.128 benign 해석 →
R264W Uncertain significance 0.139 benign 해석 →
R303Q Uncertain significance 0.075 benign 해석 →
R303W Uncertain significance 0.128 benign 해석 →
R333C Uncertain significance 0.126 benign 해석 →
R422Q Uncertain significance 0.100 benign 해석 →
R429H Uncertain significance 0.080 benign 해석 →
R456Q Uncertain significance 0.085 benign 해석 →
R456W Uncertain significance 0.089 benign 해석 →
R460Q Likely benign 0.077 benign ✓ 해석 →
R460W Uncertain significance 0.118 benign 해석 →
R465W Uncertain significance 0.098 benign 해석 →
R61W Uncertain significance 0.168 benign 해석 →
S156L Uncertain significance 0.479 ambiguous 해석 →
S225L Uncertain significance 0.117 benign 해석 →
S225W Uncertain significance 0.194 benign 해석 →
S375F Uncertain significance 0.152 benign 해석 →
S389T Uncertain significance 0.104 benign 해석 →
S419L Uncertain significance 0.363 ambiguous 해석 →
S46C Uncertain significance 0.554 ambiguous 해석 →
S499N Uncertain significance 0.106 benign 해석 →
S515C Uncertain significance 0.094 benign 해석 →
S515F Uncertain significance 0.107 benign 해석 →
S544F Uncertain significance 0.099 benign 해석 →
S550P Uncertain significance 0.054 benign 해석 →
T222I Uncertain significance 0.123 benign 해석 →
T345A Uncertain significance 0.058 benign 해석 →
T356M Uncertain significance 0.140 benign 해석 →
T404M Uncertain significance 0.242 benign 해석 →
T69M Uncertain significance 0.075 benign 해석 →
V104E Uncertain significance 0.740 pathogenic 해석 →
V14L Uncertain significance 0.089 benign 해석 →
V164A Uncertain significance 0.495 ambiguous 해석 →
V197A Uncertain significance 0.117 benign 해석 →
V295G Uncertain significance 0.323 benign 해석 →
V342F Uncertain significance 0.258 benign 해석 →
V370M Uncertain significance 0.359 ambiguous 해석 →
V380A Uncertain significance 0.754 pathogenic 해석 →
V437L Uncertain significance 0.110 benign 해석 →
V437M Uncertain significance 0.107 benign 해석 →
V511L Likely benign 0.087 benign ✓ 해석 →
V71A Uncertain significance 0.519 ambiguous 해석 →
V83A Uncertain significance 0.338 benign 해석 →
V83L Uncertain significance 0.226 benign 해석 →
W270C Uncertain significance 0.963 pathogenic 해석 →
Y136F Uncertain significance 0.161 benign 해석 →
Y187H Uncertain significance 0.139 benign 해석 →
Y435C Uncertain significance 0.572 pathogenic 해석 →
Y74N Uncertain significance 0.853 pathogenic 해석 →
L109V - 0.259 benign 해석 →
L316V - 0.188 benign 해석 →
S335Y - 0.686 pathogenic 해석 →
S583G - 0.064 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.