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

DGAT2: AM vs ClinVar 일치도

74 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
68
AM ↔ ClinVar 비교 가능 변이 6건 중 6건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A253V Uncertain significance 0.095 benign 해석 →
A49T Uncertain significance 0.100 benign 해석 →
D219N Uncertain significance 0.105 benign 해석 →
D323N Uncertain significance 0.072 benign 해석 →
D371N Uncertain significance 0.076 benign 해석 →
E15K Uncertain significance 0.192 benign 해석 →
E15V Uncertain significance 0.222 benign 해석 →
E283Q Uncertain significance 0.371 ambiguous 해석 →
E291K Uncertain significance 0.085 benign 해석 →
E386A Uncertain significance 0.122 benign 해석 →
F112Y Likely benign 0.132 benign ✓ 해석 →
F199L Uncertain significance 0.994 pathogenic 해석 →
G159A Uncertain significance 0.241 benign 해석 →
G240D Uncertain significance 0.988 pathogenic 해석 →
G250D Conflicting classifications of pathogeni 0.426 ambiguous 해석 →
G318S Likely benign 0.169 benign ✓ 해석 →
G36E Uncertain significance 0.086 benign 해석 →
H315R Uncertain significance 0.144 benign 해석 →
H349Y Uncertain significance 0.085 benign 해석 →
H373N Likely benign 0.119 benign ✓ 해석 →
I221V Uncertain significance 0.100 benign 해석 →
I235M Uncertain significance 0.247 benign 해석 →
I307T Uncertain significance 0.111 benign 해석 →
I313V Uncertain significance 0.071 benign 해석 →
I355M Uncertain significance 0.224 benign 해석 →
I90V Uncertain significance 0.068 benign 해석 →
K118T Conflicting classifications of pathogeni 0.114 benign 해석 →
K260R Uncertain significance 0.136 benign 해석 →
K301E Uncertain significance 0.197 benign 해석 →
K301R Uncertain significance 0.079 benign 해석 →
K305R Uncertain significance 0.088 benign 해석 →
K346R Uncertain significance 0.069 benign 해석 →
L105F Uncertain significance 0.113 benign 해석 →
L144P Uncertain significance 0.976 pathogenic 해석 →
L245Q Uncertain significance 0.914 pathogenic 해석 →
L319F Uncertain significance 0.073 benign 해석 →
L385V Likely benign 0.528 ambiguous 해석 →
M248R Uncertain significance 0.064 benign 해석 →
M361I Benign 0.301 benign ✓ 해석 →
M363L Uncertain significance 0.167 benign 해석 →
N149S Uncertain significance 0.077 benign 해석 →
N388S Uncertain significance 0.076 benign 해석 →
P345L Conflicting classifications of pathogeni 0.416 ambiguous 해석 →
P380L Uncertain significance 0.080 benign 해석 →
P380Q Uncertain significance 0.089 benign 해석 →
R128G Uncertain significance 0.874 pathogenic 해석 →
R128Q Uncertain significance 0.354 ambiguous 해석 →
R134H Uncertain significance 0.083 benign 해석 →
R218W Uncertain significance 0.346 ambiguous 해석 →
R257Q Uncertain significance 0.087 benign 해석 →
R259C Uncertain significance 0.865 pathogenic 해석 →
R268C Uncertain significance 0.131 benign 해석 →
R297* Uncertain significance — 미적재 해석 →
R297Q Benign/Likely benign 0.206 benign ✓ 해석 →
R317Q Uncertain significance 0.094 benign 해석 →
R34C Likely benign 0.222 benign ✓ 해석 →
R61K Uncertain significance 0.072 benign 해석 →
S246G Uncertain significance 0.099 benign 해석 →
S247F Uncertain significance 0.825 pathogenic 해석 →
S26F Uncertain significance 0.110 benign 해석 →
S33P Uncertain significance 0.067 benign 해석 →
T152I Uncertain significance 0.204 benign 해석 →
T335I Uncertain significance 0.200 benign 해석 →
V237M Uncertain significance 0.699 pathogenic 해석 →
V82A Uncertain significance 0.127 benign 해석 →
W130R Uncertain significance 0.979 pathogenic 해석 →
W295R Uncertain significance 0.539 ambiguous 해석 →
Y223H Uncertain significance 0.163 benign 해석 →
Y223S Uncertain significance 0.395 ambiguous 해석 →
Y277H Uncertain significance 0.921 pathogenic 해석 →
Y285* Conflicting classifications of pathogeni — 미적재 해석 →
G212C - 0.909 pathogenic 해석 →
G280V - 0.992 pathogenic 해석 →
I94V - 0.074 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.