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

PPARGC1A: AM vs ClinVar 일치도

118 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
7
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
111
AM ↔ ClinVar 비교 가능 변이 7건 중 7건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A478T Uncertain significance 0.073 benign 해석 →
A662V Uncertain significance 0.249 benign 해석 →
A792D Uncertain significance 0.998 pathogenic 해석 →
C547R Uncertain significance 0.237 benign 해석 →
D218N Uncertain significance 0.088 benign 해석 →
D234E Uncertain significance 0.104 benign 해석 →
D414G Uncertain significance 0.079 benign 해석 →
D763E Uncertain significance 0.888 pathogenic 해석 →
D786E Uncertain significance 0.972 pathogenic 해석 →
E353D Uncertain significance 0.705 pathogenic 해석 →
E411A Uncertain significance 0.115 benign 해석 →
E461K Uncertain significance 0.619 pathogenic 해석 →
E461Q Uncertain significance 0.391 ambiguous 해석 →
E666K Uncertain significance 0.466 ambiguous 해석 →
E743K Uncertain significance 0.966 pathogenic 해석 →
F534L Uncertain significance 0.725 pathogenic 해석 →
F697C Uncertain significance 0.997 pathogenic 해석 →
F729L Uncertain significance 0.988 pathogenic 해석 →
G105R Uncertain significance 0.860 pathogenic 해석 →
G115R Uncertain significance 0.449 ambiguous 해석 →
G131S Uncertain significance 0.078 benign 해석 →
G367R Uncertain significance 0.266 benign 해석 →
G482S Benign 0.056 benign ✓ 해석 →
G527A Uncertain significance 0.132 benign 해석 →
G592S Uncertain significance 0.079 benign 해석 →
H607R Uncertain significance 0.080 benign 해석 →
H610P Uncertain significance 0.056 benign 해석 →
H610Q Uncertain significance 0.100 benign 해석 →
I182T Uncertain significance 0.081 benign 해석 →
I280V Uncertain significance 0.084 benign 해석 →
I396T Uncertain significance 0.167 benign 해석 →
I501V Uncertain significance 0.121 benign 해석 →
I64V Uncertain significance 0.087 benign 해석 →
I703T Uncertain significance 0.970 pathogenic 해석 →
K254E Uncertain significance 0.373 ambiguous 해석 →
K317R Uncertain significance 0.087 benign 해석 →
K480E Uncertain significance 0.121 benign 해석 →
K480Q Uncertain significance 0.135 benign 해석 →
K480T Uncertain significance 0.156 benign 해석 →
K496Q Uncertain significance 0.181 benign 해석 →
L260V Uncertain significance 0.359 ambiguous 해석 →
L38F Uncertain significance 0.830 pathogenic 해석 →
L410I Benign 0.066 benign ✓ 해석 →
L438S Benign 0.063 benign ✓ 해석 →
L557S Uncertain significance 0.142 benign 해석 →
M128T Uncertain significance 0.095 benign 해석 →
M565I Uncertain significance 0.139 benign 해석 →
M5K Uncertain significance 0.122 benign 해석 →
N168S Uncertain significance 0.096 benign 해석 →
N228K Uncertain significance 0.152 benign 해석 →
N535D Likely benign 0.046 benign ✓ 해석 →
P274R Uncertain significance 0.570 pathogenic 해석 →
P309S Uncertain significance 0.337 benign 해석 →
P349Q Uncertain significance 0.217 benign 해석 →
P524L Uncertain significance 0.096 benign 해석 →
P627S Uncertain significance 0.244 benign 해석 →
Q136K Uncertain significance 0.090 benign 해석 →
Q198E Uncertain significance 0.145 benign 해석 →
Q443H Uncertain significance 0.114 benign 해석 →
Q560E Uncertain significance 0.088 benign 해석 →
Q664R Uncertain significance 0.401 ambiguous 해석 →
Q8P Uncertain significance 0.154 benign 해석 →
R375P Uncertain significance 0.740 pathogenic 해석 →
R379W Uncertain significance 0.354 ambiguous 해석 →
R459Q Uncertain significance 0.736 pathogenic 해석 →
R566C Benign 0.114 benign ✓ 해석 →
R566H Uncertain significance 0.096 benign 해석 →
R570G Uncertain significance 0.138 benign 해석 →
R574Q Uncertain significance 0.084 benign 해석 →
R576K Uncertain significance 0.219 benign 해석 →
R611H Benign/Likely benign 0.088 benign ✓ 해석 →
R611S Uncertain significance 0.209 benign 해석 →
R614Q Uncertain significance 0.097 benign 해석 →
R623P Uncertain significance 0.227 benign 해석 →
R630C Uncertain significance 0.098 benign 해석 →
R631W Uncertain significance 0.473 ambiguous 해석 →
R651C Uncertain significance 0.205 benign 해석 →
R651H Uncertain significance 0.155 benign 해석 →
R696H Uncertain significance 0.849 pathogenic 해석 →
R711W Uncertain significance 0.448 ambiguous 해석 →
R723H Uncertain significance 0.856 pathogenic 해석 →
R797C Uncertain significance 0.677 pathogenic 해석 →
S318F Uncertain significance 0.134 benign 해석 →
S336C Uncertain significance 0.078 benign 해석 →
S336T Uncertain significance 0.072 benign 해석 →
S441G Uncertain significance 0.058 benign 해석 →
S441I Uncertain significance 0.105 benign 해석 →
S487G Uncertain significance 0.071 benign 해석 →
S490T Uncertain significance 0.089 benign 해석 →
S495P Uncertain significance 0.262 benign 해석 →
S542F Uncertain significance 0.238 benign 해석 →
S599T Uncertain significance 0.116 benign 해석 →
S768T Uncertain significance 0.097 benign 해석 →
T178A Uncertain significance 0.071 benign 해석 →
T257I Uncertain significance 0.198 benign 해석 →
T279I Uncertain significance 0.274 benign 해석 →
T394I Uncertain significance 0.166 benign 해석 →
T449A Uncertain significance 0.070 benign 해석 →
T481P Uncertain significance 0.096 benign 해석 →
T612M Benign 0.096 benign ✓ 해석 →
T612P Uncertain significance 0.067 benign 해석 →
T725A Uncertain significance 0.678 pathogenic 해석 →
V323L Uncertain significance 0.123 benign 해석 →
V363F Uncertain significance 0.101 benign 해석 →
V708I Uncertain significance 0.121 benign 해석 →
W3R Uncertain significance 0.987 pathogenic 해석 →
W57R Uncertain significance 0.994 pathogenic 해석 →
Y158C Uncertain significance 0.102 benign 해석 →
Y603H Uncertain significance 0.096 benign 해석 →
Y634C Uncertain significance 0.578 pathogenic 해석 →
Y680C Uncertain significance 0.383 ambiguous 해석 →
G293C - 0.834 pathogenic 해석 →
G752R - 0.779 pathogenic 해석 →
I80V - 0.182 benign 해석 →
R548I - 0.360 ambiguous 해석 →
R548K - 0.167 benign 해석 →
R594I - 0.375 ambiguous 해석 →
R657* - — 미적재 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.