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

SELP: AM vs ClinVar 일치도

123 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
16
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
107
AM ↔ ClinVar 비교 가능 변이 16건 중 16건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A246V Uncertain significance 0.236 benign 해석 →
A329T Uncertain significance 0.078 benign 해석 →
A405G Uncertain significance 0.084 benign 해석 →
A405V Uncertain significance 0.086 benign 해석 →
A674S Uncertain significance 0.085 benign 해석 →
A674T Uncertain significance 0.070 benign 해석 →
A714V Likely benign 0.062 benign ✓ 해석 →
C194Y Uncertain significance 0.988 pathogenic 해석 →
C200G Uncertain significance 0.880 pathogenic 해석 →
C275F Uncertain significance 0.501 ambiguous 해석 →
C319R Uncertain significance 0.957 pathogenic 해석 →
C337Y Uncertain significance 0.878 pathogenic 해석 →
C350R Uncertain significance 0.902 pathogenic 해석 →
C381Y Uncertain significance 0.841 pathogenic 해석 →
C399R Uncertain significance 0.690 pathogenic 해석 →
C655Y Uncertain significance 0.712 pathogenic 해석 →
D130E Uncertain significance 0.892 pathogenic 해석 →
D232N Uncertain significance 0.073 benign 해석 →
D409V Uncertain significance 0.166 benign 해석 →
D426N Uncertain significance 0.076 benign 해석 →
D603N Benign 0.060 benign ✓ 해석 →
E456* Uncertain significance — 미적재 해석 →
E579K Uncertain significance 0.069 benign 해석 →
G233R Uncertain significance 0.343 ambiguous 해석 →
G248E Uncertain significance 0.374 ambiguous 해석 →
G395R Uncertain significance 0.642 pathogenic 해석 →
G543E Uncertain significance 0.304 benign 해석 →
G605S Uncertain significance 0.082 benign 해석 →
G680E Uncertain significance 0.383 ambiguous 해석 →
G742S Uncertain significance 0.106 benign 해석 →
G789R Uncertain significance 0.670 pathogenic 해석 →
G789W Uncertain significance 0.302 benign 해석 →
H277N Uncertain significance 0.078 benign 해석 →
H599R Uncertain significance 0.063 benign 해석 →
H708P Uncertain significance 0.071 benign 해석 →
I178M Uncertain significance 0.252 benign 해석 →
I20V Uncertain significance 0.080 benign 해석 →
I679T Uncertain significance 0.047 benign 해석 →
I729V Uncertain significance 0.067 benign 해석 →
I786T Uncertain significance 0.115 benign 해석 →
K137R Uncertain significance 0.118 benign 해석 →
K154R Uncertain significance 0.566 pathogenic 해석 →
K241E Likely benign 0.074 benign ✓ 해석 →
L157F Uncertain significance 0.831 pathogenic 해석 →
L210F Uncertain significance 0.065 benign 해석 →
L29P Uncertain significance 0.399 ambiguous 해석 →
L33V Uncertain significance 0.079 benign 해석 →
L422Q Uncertain significance 0.171 benign 해석 →
L583P Uncertain significance 0.430 ambiguous 해석 →
L67F Uncertain significance 0.766 pathogenic 해석 →
L707V Uncertain significance 0.125 benign 해석 →
M365T Likely benign 0.047 benign ✓ 해석 →
M421I Uncertain significance 0.116 benign 해석 →
N272H Uncertain significance 0.076 benign 해석 →
N673S Benign 0.070 benign ✓ 해석 →
P142L Uncertain significance 0.199 benign 해석 →
P142T Uncertain significance 0.139 benign 해석 →
P216S Uncertain significance 0.156 benign 해석 →
P388L Uncertain significance 0.078 benign 해석 →
P502S Uncertain significance 0.093 benign 해석 →
P549S Uncertain significance 0.088 benign 해석 →
P627A Uncertain significance 0.136 benign 해석 →
P627T Uncertain significance 0.252 benign 해석 →
P828L Uncertain significance 0.133 benign 해석 →
Q225R Uncertain significance 0.073 benign 해석 →
Q525R Uncertain significance 0.082 benign 해석 →
Q580R Uncertain significance 0.062 benign 해석 →
Q641P Uncertain significance 0.074 benign 해석 →
Q641R Likely benign 0.064 benign ✓ 해석 →
Q691K Uncertain significance 0.079 benign 해석 →
R367H Likely benign 0.061 benign ✓ 해석 →
R415C Uncertain significance 0.145 benign 해석 →
R415H Likely benign 0.054 benign ✓ 해석 →
R423K Uncertain significance 0.076 benign 해석 →
R429L Uncertain significance 0.110 benign 해석 →
R458Q Likely benign 0.059 benign ✓ 해석 →
R458W Uncertain significance 0.079 benign 해석 →
R589C Uncertain significance 0.120 benign 해석 →
R63C Uncertain significance 0.188 benign 해석 →
S27N Uncertain significance 0.263 benign 해석 →
S331G Uncertain significance 0.063 benign 해석 →
S331N Benign 0.079 benign ✓ 해석 →
S375A Uncertain significance 0.180 benign 해석 →
S375P Uncertain significance 0.470 ambiguous 해석 →
S472L Uncertain significance 0.453 ambiguous 해석 →
S500F Uncertain significance 0.163 benign 해석 →
S557P Uncertain significance 0.170 benign 해석 →
S582R Uncertain significance 0.143 benign 해석 →
S619A Benign 0.080 benign ✓ 해석 →
S743C Uncertain significance 0.393 ambiguous 해석 →
T160I Uncertain significance 0.223 benign 해석 →
T274I Benign 0.103 benign ✓ 해석 →
T380N Uncertain significance 0.090 benign 해석 →
T43A Uncertain significance 0.182 benign 해석 →
T495P Uncertain significance 0.147 benign 해석 →
T522S Uncertain significance 0.081 benign 해석 →
T617K Uncertain significance 0.118 benign 해석 →
T756P Benign 0.102 benign ✓ 해석 →
T767A Uncertain significance 0.079 benign 해석 →
T822I Uncertain significance 0.735 pathogenic 해석 →
V132A Uncertain significance 0.860 pathogenic 해석 →
V132M Uncertain significance 0.937 pathogenic 해석 →
V360L Uncertain significance 0.092 benign 해석 →
V459A Uncertain significance 0.150 benign 해석 →
V524A Uncertain significance 0.098 benign 해석 →
V524I Likely benign 0.067 benign ✓ 해석 →
V614L Uncertain significance 0.116 benign 해석 →
V640L Benign 0.087 benign ✓ 해석 →
V640L Benign 0.087 benign ✓ 해석 →
V758L Uncertain significance 0.084 benign 해석 →
W250R Uncertain significance 0.983 pathogenic 해석 →
W312G Uncertain significance 0.815 pathogenic 해석 →
Y408C Uncertain significance 0.338 benign 해석 →
Y78H Uncertain significance 0.131 benign 해석 →
A507S - 0.093 benign 해석 →
A569S - 0.101 benign 해석 →
A701S - 0.164 benign 해석 →
E736Q - 0.093 benign 해석 →
E770* - — 미적재 해석 →
N604K - 0.062 benign 해석 →
S685R - 0.083 benign 해석 →
T647S - 0.082 benign 해석 →
T756A - 0.056 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.