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

IDH2: AM vs ClinVar 일치도

152 변이
✓ 둘 다 병원성
5
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
141
AM ↔ ClinVar 비교 가능 변이 11건 중 10건 일치 / 1건 불일치 — 일치도 90.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A347T Likely pathogenic 0.977 pathogenic ✓ 해석 →
H430Y Likely pathogenic 0.234 benign ⚠ 해석 →
R140G Pathogenic 0.994 pathogenic ✓ 해석 →
R140Q Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
R172G Likely pathogenic 0.998 pathogenic ✓ 해석 →
R172S Pathogenic 0.999 pathogenic ✓ 해석 →
*453W Uncertain significance — 미적재 해석 →
A174T Uncertain significance 0.961 pathogenic 해석 →
A214T Uncertain significance 0.069 benign 해석 →
A22V Uncertain significance 0.080 benign 해석 →
A232V Conflicting classifications of pathogeni 0.955 pathogenic 해석 →
A239T Uncertain significance 0.685 pathogenic 해석 →
A28T Uncertain significance 0.075 benign 해석 →
A2G Uncertain significance 0.087 benign 해석 →
A410T Uncertain significance 0.075 benign 해석 →
A47V Uncertain significance 0.117 benign 해석 →
C113F Uncertain significance 0.996 pathogenic 해석 →
C308S Uncertain significance 0.860 pathogenic 해석 →
D225E Uncertain significance 0.396 ambiguous 해석 →
D225N Conflicting classifications of pathogeni 0.162 benign 해석 →
D338E Uncertain significance 0.931 pathogenic 해석 →
D386H Conflicting classifications of pathogeni 0.973 pathogenic 해석 →
D41N Uncertain significance 0.091 benign 해석 →
D439N Uncertain significance 0.112 benign 해석 →
D76G Uncertain significance 0.406 ambiguous 해석 →
E150Q Uncertain significance 0.459 ambiguous 해석 →
E208K Uncertain significance 0.181 benign 해석 →
E208Q Uncertain significance 0.153 benign 해석 →
E226K Uncertain significance 0.131 benign 해석 →
E33G Uncertain significance 0.072 benign 해석 →
E404Q Uncertain significance 0.115 benign 해석 →
E429K Uncertain significance 0.163 benign 해석 →
F196L Uncertain significance 0.988 pathogenic 해석 →
G144E Uncertain significance 0.838 pathogenic 해석 →
G16D Uncertain significance 0.112 benign 해석 →
G203D Uncertain significance 0.074 benign 해석 →
G216C Uncertain significance 0.867 pathogenic 해석 →
G216S Uncertain significance 0.717 pathogenic 해석 →
G302A Uncertain significance 0.898 pathogenic 해석 →
G3D Uncertain significance 0.209 benign 해석 →
G421S Uncertain significance 0.289 benign 해석 →
G85R Uncertain significance 0.983 pathogenic 해석 →
H381Q Uncertain significance 0.709 pathogenic 해석 →
H420L Uncertain significance 0.382 ambiguous 해석 →
I142T Uncertain significance 0.807 pathogenic 해석 →
I269V Uncertain significance 0.083 benign 해석 →
I283M Uncertain significance 0.155 benign 해석 →
I419V Uncertain significance 0.099 benign 해석 →
I98T Uncertain significance 0.183 benign 해석 →
K130M Uncertain significance 0.258 benign 해석 →
K130Q Uncertain significance 0.076 benign 해석 →
K155Q Uncertain significance 0.090 benign 해석 →
K272R Uncertain significance 0.078 benign 해석 →
K275Q Uncertain significance 0.125 benign 해석 →
K280N Uncertain significance 0.164 benign 해석 →
K282E Uncertain significance 0.100 benign 해석 →
K384N Uncertain significance 0.410 ambiguous 해석 →
K442R Uncertain significance 0.080 benign 해석 →
K69E Uncertain significance 0.271 benign 해석 →
L391F Uncertain significance 0.899 pathogenic 해석 →
L427V Uncertain significance 0.097 benign 해석 →
M194I Uncertain significance 0.203 benign 해석 →
M219I Uncertain significance 0.648 pathogenic 해석 →
M221T Uncertain significance 0.881 pathogenic 해석 →
M221V Uncertain significance 0.677 pathogenic 해석 →
M248L Uncertain significance 0.099 benign 해석 →
M248R Uncertain significance 0.985 pathogenic 해석 →
M248V Uncertain significance 0.445 ambiguous 해석 →
M293L Uncertain significance 0.744 pathogenic 해석 →
M293L Uncertain significance 0.744 pathogenic 해석 →
M397V Likely benign 0.079 benign ✓ 해석 →
M411L Uncertain significance 0.452 ambiguous 해석 →
M58R Uncertain significance 0.993 pathogenic 해석 →
N136I Uncertain significance 0.990 pathogenic 해석 →
N281S Uncertain significance 0.079 benign 해석 →
N388T Uncertain significance 0.358 ambiguous 해석 →
N424K Uncertain significance 0.154 benign 해석 →
N88H Likely benign 0.032 benign ✓ 해석 →
P167R Uncertain significance 0.702 pathogenic 해석 →
P19Q Uncertain significance 0.077 benign 해석 →
P213L Uncertain significance 0.121 benign 해석 →
P23R Uncertain significance 0.079 benign 해석 →
P23S Uncertain significance 0.073 benign 해석 →
P245L Uncertain significance 0.769 pathogenic 해석 →
P337L Uncertain significance 0.539 ambiguous 해석 →
P35Q Uncertain significance 0.060 benign 해석 →
P49A Uncertain significance 0.181 benign 해석 →
Q178* Uncertain significance — 미적재 해석 →
Q241H Uncertain significance 0.178 benign 해석 →
Q241R Uncertain significance 0.100 benign 해석 →
Q267R Uncertain significance 0.276 benign 해석 →
Q32P Uncertain significance 0.060 benign 해석 →
Q32R Uncertain significance 0.064 benign 해석 →
Q359R Uncertain significance 0.380 ambiguous 해석 →
Q396K Uncertain significance 0.077 benign 해석 →
Q452E Uncertain significance 0.078 benign 해석 →
R122P Uncertain significance 0.999 pathogenic 해석 →
R140W Uncertain significance 0.987 pathogenic 해석 →
R159C Uncertain significance 0.306 benign 해석 →
R172K risk factor 0.994 pathogenic 해석 →
R172M risk factor 1.000 pathogenic 해석 →
R172S risk factor 0.999 pathogenic 해석 →
R172W risk factor 0.987 pathogenic 해석 →
R188G Uncertain significance 0.110 benign 해석 →
R188Q Uncertain significance 0.071 benign 해석 →
R188W Uncertain significance 0.368 ambiguous 해석 →
R18Q Uncertain significance 0.108 benign 해석 →
R261H Benign/Likely benign 0.319 benign ✓ 해석 →
R288L Uncertain significance 0.984 pathogenic 해석 →
R288W Uncertain significance 0.964 pathogenic 해석 →
R362W Uncertain significance 0.289 benign 해석 →
R377C Uncertain significance 0.408 ambiguous 해석 →
R377H Uncertain significance 0.386 ambiguous 해석 →
R37C Uncertain significance 0.386 ambiguous 해석 →
R382W Uncertain significance 0.934 pathogenic 해석 →
R393K Uncertain significance 0.082 benign 해석 →
R60H Uncertain significance 0.519 ambiguous 해석 →
R89C Uncertain significance 0.980 pathogenic 해석 →
R89H Uncertain significance 0.992 pathogenic 해석 →
S10L Uncertain significance 0.189 benign 해석 →
T169I Uncertain significance 0.126 benign 해석 →
T250A Uncertain significance 0.891 pathogenic 해석 →
T276I Uncertain significance 0.093 benign 해석 →
T30S Uncertain significance 0.063 benign 해석 →
T341K Uncertain significance 0.862 pathogenic 해석 →
T341M Uncertain significance 0.280 benign 해석 →
T366S Uncertain significance 0.870 pathogenic 해석 →
T435M Conflicting classifications of pathogeni 0.096 benign 해석 →
V147I Uncertain significance 0.161 benign 해석 →
V147L Uncertain significance 0.943 pathogenic 해석 →
V297A Likely benign 0.208 benign ✓ 해석 →
V305A Uncertain significance 0.883 pathogenic 해석 →
V305L Uncertain significance 0.485 ambiguous 해석 →
V305M Uncertain significance 0.637 pathogenic 해석 →
V333I Uncertain significance 0.106 benign 해석 →
V335I Likely benign 0.082 benign ✓ 해석 →
V351I Uncertain significance 0.453 ambiguous 해석 →
V46E Uncertain significance 0.947 pathogenic 해석 →
V50M Uncertain significance 0.644 pathogenic 해석 →
V75M Uncertain significance 0.365 ambiguous 해석 →
V8A Conflicting classifications of pathogeni 0.087 benign 해석 →
W132R Uncertain significance 0.996 pathogenic 해석 →
W21* Uncertain significance — 미적재 해석 →
W21S Uncertain significance 0.056 benign 해석 →
W244S Uncertain significance 0.510 ambiguous 해석 →
Y107C Uncertain significance 0.280 benign 해석 →
Y210C Uncertain significance 0.143 benign 해석 →
Y238H Uncertain significance 0.352 ambiguous 해석 →
Y274C Uncertain significance 0.472 ambiguous 해석 →
Y285C Uncertain significance 0.945 pathogenic 해석 →
Y39H Uncertain significance 0.315 benign 해석 →
A416V - 0.840 pathogenic 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.