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

SLC18A1: AM vs ClinVar 일치도

117 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
114
AM ↔ ClinVar 비교 가능 변이 3건 중 3건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A144T Uncertain significance 0.232 benign 해석 →
A185P Uncertain significance 0.744 pathogenic 해석 →
A18T Uncertain significance 0.073 benign 해석 →
A305V Uncertain significance 0.213 benign 해석 →
A30T Uncertain significance 0.405 ambiguous 해석 →
A345S Uncertain significance 0.101 benign 해석 →
A360G Uncertain significance 0.138 benign 해석 →
A433T Uncertain significance 0.204 benign 해석 →
A450V Uncertain significance 0.075 benign 해석 →
A483T Uncertain significance 0.086 benign 해석 →
A74T Likely benign 0.064 benign ✓ 해석 →
C125G Uncertain significance 0.416 ambiguous 해석 →
D222A Uncertain significance 0.338 benign 해석 →
D222N Uncertain significance 0.146 benign 해석 →
D299E Uncertain significance 0.852 pathogenic 해석 →
D518H Uncertain significance 0.107 benign 해석 →
E135D Uncertain significance 0.248 benign 해석 →
E224Q Uncertain significance 0.115 benign 해석 →
E485D Uncertain significance 0.165 benign 해석 →
E520G Uncertain significance 0.072 benign 해석 →
E53Q Uncertain significance 0.116 benign 해석 →
F294L Likely benign 0.122 benign ✓ 해석 →
F390L Uncertain significance 0.329 benign 해석 →
F441S Uncertain significance 0.742 pathogenic 해석 →
F82C Uncertain significance 0.173 benign 해석 →
G140E Uncertain significance 0.643 pathogenic 해석 →
G16A Uncertain significance 0.090 benign 해석 →
G188E Uncertain significance 0.095 benign 해석 →
G203E Uncertain significance 0.982 pathogenic 해석 →
G290R Uncertain significance 0.442 ambiguous 해석 →
G364C Uncertain significance 0.711 pathogenic 해석 →
G449C Uncertain significance 0.333 benign 해석 →
G456S Uncertain significance 0.154 benign 해석 →
G456V Uncertain significance 0.791 pathogenic 해석 →
G514R Uncertain significance 0.091 benign 해석 →
G64S Uncertain significance 0.075 benign 해석 →
H223R Uncertain significance 0.059 benign 해석 →
H422Q Uncertain significance 0.770 pathogenic 해석 →
H71Q Uncertain significance 0.067 benign 해석 →
I176F Uncertain significance 0.201 benign 해석 →
I202M Uncertain significance 0.084 benign 해석 →
I202T Uncertain significance 0.116 benign 해석 →
I202V Uncertain significance 0.066 benign 해석 →
I309V Uncertain significance 0.126 benign 해석 →
I403V Uncertain significance 0.081 benign 해석 →
I432V Uncertain significance 0.087 benign 해석 →
I469F Uncertain significance 0.127 benign 해석 →
K335R Uncertain significance 0.082 benign 해석 →
K362E Uncertain significance 0.177 benign 해석 →
L132F Uncertain significance 0.124 benign 해석 →
L151F Uncertain significance 0.184 benign 해석 →
L179F Uncertain significance 0.071 benign 해석 →
L193R Uncertain significance 0.722 pathogenic 해석 →
L278V Uncertain significance 0.239 benign 해석 →
L338V Uncertain significance 0.134 benign 해석 →
L350F Uncertain significance 0.130 benign 해석 →
L359M Uncertain significance 0.124 benign 해석 →
L399V Uncertain significance 0.108 benign 해석 →
L63V Uncertain significance 0.068 benign 해석 →
M149T Uncertain significance 0.147 benign 해석 →
M170T Uncertain significance 0.636 pathogenic 해석 →
M170V Uncertain significance 0.125 benign 해석 →
M214T Uncertain significance 0.684 pathogenic 해석 →
M229V Uncertain significance 0.181 benign 해석 →
M295I Uncertain significance 0.088 benign 해석 →
M411I Uncertain significance 0.525 ambiguous 해석 →
M414L Uncertain significance 0.189 benign 해석 →
N154K Uncertain significance 0.928 pathogenic 해석 →
N162K Uncertain significance 0.597 pathogenic 해석 →
N162S Uncertain significance 0.090 benign 해석 →
N35D Uncertain significance 0.449 ambiguous 해석 →
N361S Uncertain significance 0.075 benign 해석 →
N388S Uncertain significance 0.067 benign 해석 →
N396S Uncertain significance 0.077 benign 해석 →
N396T Uncertain significance 0.102 benign 해석 →
P112R Uncertain significance 0.077 benign 해석 →
P155A Uncertain significance 0.271 benign 해석 →
P155T Uncertain significance 0.247 benign 해석 →
P169S Uncertain significance 0.618 pathogenic 해석 →
P259R Uncertain significance 0.909 pathogenic 해석 →
P280A Uncertain significance 0.314 benign 해석 →
P280H Uncertain significance 0.524 ambiguous 해석 →
P280S Uncertain significance 0.527 ambiguous 해석 →
P334T Uncertain significance 0.101 benign 해석 →
P384L Uncertain significance 0.615 pathogenic 해석 →
P412T Uncertain significance 0.383 ambiguous 해석 →
P482A Uncertain significance 0.073 benign 해석 →
P482L Uncertain significance 0.111 benign 해석 →
R197Q Uncertain significance 0.455 ambiguous 해석 →
R20Q Uncertain significance 0.099 benign 해석 →
R365W Uncertain significance 0.229 benign 해석 →
R421C Uncertain significance 0.428 ambiguous 해석 →
R421H Uncertain significance 0.331 benign 해석 →
S180T Uncertain significance 0.430 ambiguous 해석 →
S19P Uncertain significance 0.263 benign 해석 →
S248G Uncertain significance 0.116 benign 해석 →
S281T Uncertain significance 0.080 benign 해석 →
S308F Uncertain significance 0.650 pathogenic 해석 →
S333C Uncertain significance 0.153 benign 해석 →
S480N Uncertain significance 0.064 benign 해석 →
S492R Uncertain significance 0.183 benign 해석 →
T109I Uncertain significance 0.094 benign 해석 →
T129P Uncertain significance 0.080 benign 해석 →
T499N Uncertain significance 0.088 benign 해석 →
T499S Uncertain significance 0.099 benign 해석 →
V153I Uncertain significance 0.086 benign 해석 →
V157L Uncertain significance 0.427 ambiguous 해석 →
V157M Uncertain significance 0.286 benign 해석 →
V254A Uncertain significance 0.093 benign 해석 →
V316M Uncertain significance 0.159 benign 해석 →
V452G Uncertain significance 0.193 benign 해석 →
V466F Uncertain significance 0.084 benign 해석 →
V470A Uncertain significance 0.067 benign 해석 →
V90M Likely benign 0.070 benign ✓ 해석 →
V96I Uncertain significance 0.070 benign 해석 →
Y471C Uncertain significance 0.170 benign 해석 →
Y476H Uncertain significance 0.140 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.