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

GFAP: AM vs ClinVar 일치도

360 변이
✓ 둘 다 병원성
56
✓ 둘 다 양성
13
⚠ CV=병원성 / AM=양성
7
⚠ CV=양성 / AM=병원성
0
— AM 미적재
284
AM ↔ ClinVar 비교 가능 변이 76건 중 69건 일치 / 7건 불일치 — 일치도 90.8%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A253G Pathogenic 0.390 ambiguous 해석 →
A267P Pathogenic 0.981 pathogenic ✓ 해석 →
A268D Pathogenic 0.959 pathogenic ✓ 해석 →
A358T Likely pathogenic 0.841 pathogenic ✓ 해석 →
A81D Pathogenic 0.996 pathogenic ✓ 해석 →
A81P Likely pathogenic 0.991 pathogenic ✓ 해석 →
D128N Pathogenic/Likely pathogenic 0.293 benign ⚠ 해석 →
D360V Pathogenic 0.995 pathogenic ✓ 해석 →
D360Y Likely pathogenic 0.990 pathogenic ✓ 해석 →
D78E Pathogenic 0.907 pathogenic ✓ 해석 →
D78Y Pathogenic 0.912 pathogenic ✓ 해석 →
E205K Conflicting classifications of pathogeni 0.193 benign 해석 →
E207D Likely pathogenic 0.577 pathogenic ✓ 해석 →
E207V Conflicting classifications of pathogeni 0.761 pathogenic 해석 →
E223Q Conflicting classifications of pathogeni 0.190 benign 해석 →
E332K Pathogenic 0.185 benign ⚠ 해석 →
E362D Pathogenic 0.998 pathogenic ✓ 해석 →
E362G Pathogenic 0.998 pathogenic ✓ 해석 →
E371K Conflicting classifications of pathogeni 0.963 pathogenic 해석 →
E373K Pathogenic 0.967 pathogenic ✓ 해석 →
E374Q Pathogenic 0.941 pathogenic ✓ 해석 →
E69K Likely pathogenic 0.932 pathogenic ✓ 해석 →
E72G Likely pathogenic 0.684 pathogenic ✓ 해석 →
G18V Pathogenic 0.125 benign ⚠ 해석 →
H345P Likely pathogenic 0.988 pathogenic ✓ 해석 →
I363V Pathogenic 0.938 pathogenic ✓ 해석 →
I84M Likely pathogenic 0.753 pathogenic ✓ 해석 →
K236E Likely pathogenic 0.467 ambiguous 해석 →
K260E Likely pathogenic 0.976 pathogenic ✓ 해석 →
L123P Likely pathogenic 0.989 pathogenic ✓ 해석 →
L235P Pathogenic 0.993 pathogenic ✓ 해석 →
L264P Pathogenic 0.995 pathogenic ✓ 해석 →
L352P Pathogenic 0.999 pathogenic ✓ 해석 →
L357P Likely pathogenic 0.998 pathogenic ✓ 해석 →
L359P Pathogenic 0.999 pathogenic ✓ 해석 →
L369P Pathogenic 1.000 pathogenic ✓ 해석 →
L370P Likely pathogenic 0.998 pathogenic ✓ 해석 →
L76F Pathogenic 0.993 pathogenic ✓ 해석 →
L76P Likely pathogenic 0.999 pathogenic ✓ 해석 →
M415I Likely pathogenic 0.790 pathogenic ✓ 해석 →
M73I Likely pathogenic 0.984 pathogenic ✓ 해석 →
M73T Pathogenic 0.995 pathogenic ✓ 해석 →
M73V Pathogenic 0.892 pathogenic ✓ 해석 →
N375K Likely pathogenic 0.784 pathogenic ✓ 해석 →
N386I Pathogenic 0.529 ambiguous 해석 →
N386S Pathogenic 0.081 benign ⚠ 해석 →
N407I Likely pathogenic 0.525 ambiguous 해석 →
N77K Pathogenic 0.997 pathogenic ✓ 해석 →
N77S Pathogenic 0.965 pathogenic ✓ 해석 →
N77Y Pathogenic 0.990 pathogenic ✓ 해석 →
R124Q Conflicting classifications of pathogeni 0.220 benign 해석 →
R239C Pathogenic 0.752 pathogenic ✓ 해석 →
R239H Pathogenic 0.570 pathogenic ✓ 해석 →
R239L Pathogenic 0.951 pathogenic ✓ 해석 →
R258C Pathogenic 0.224 benign ⚠ 해석 →
R270G Likely pathogenic 0.388 ambiguous 해석 →
R276L Pathogenic 0.449 ambiguous 해석 →
R376G Pathogenic 0.975 pathogenic ✓ 해석 →
R376Q Conflicting classifications of pathogeni 0.863 pathogenic 해석 →
R376W Pathogenic 0.930 pathogenic ✓ 해석 →
R416W Pathogenic 0.523 ambiguous 해석 →
R66P Likely pathogenic 0.924 pathogenic ✓ 해석 →
R66Q Conflicting classifications of pathogeni 0.472 ambiguous 해석 →
R66W Conflicting classifications of pathogeni 0.796 pathogenic 해석 →
R70Q Conflicting classifications of pathogeni 0.367 ambiguous 해석 →
R70W Pathogenic 0.827 pathogenic ✓ 해석 →
R79C Pathogenic 0.910 pathogenic ✓ 해석 →
R79G Pathogenic 0.975 pathogenic ✓ 해석 →
R79H Pathogenic 0.745 pathogenic ✓ 해석 →
R79L Pathogenic 0.936 pathogenic ✓ 해석 →
R88C Pathogenic 0.734 pathogenic ✓ 해석 →
R88S Pathogenic 0.967 pathogenic ✓ 해석 →
S385C Pathogenic/Likely pathogenic 0.214 benign ⚠ 해석 →
S398F Pathogenic 0.218 benign ⚠ 해석 →
T412I Likely pathogenic 0.936 pathogenic ✓ 해석 →
V87F Conflicting classifications of pathogeni 0.978 pathogenic 해석 →
V87I Pathogenic 0.872 pathogenic ✓ 해석 →
V87L Pathogenic 0.991 pathogenic ✓ 해석 →
Y349S Likely pathogenic 0.985 pathogenic ✓ 해석 →
Y366H Pathogenic 0.998 pathogenic ✓ 해석 →
A118P Uncertain significance 0.655 pathogenic 해석 →
A132T Uncertain significance 0.075 benign 해석 →
A135T Uncertain significance 0.099 benign 해석 →
A145T Likely benign 0.077 benign ✓ 해석 →
A149D Uncertain significance 0.148 benign 해석 →
A176V Uncertain significance 0.145 benign 해석 →
A182D Uncertain significance 0.404 ambiguous 해석 →
A182V Uncertain significance 0.101 benign 해석 →
A216T Uncertain significance 0.083 benign 해석 →
A233T Uncertain significance 0.083 benign 해석 →
A234T Uncertain significance 0.474 ambiguous 해석 →
A244V not provided 0.114 benign 해석 →
A246V Uncertain significance 0.477 ambiguous 해석 →
A269S Uncertain significance 0.068 benign 해석 →
A26T Likely benign 0.070 benign ✓ 해석 →
A26V Uncertain significance 0.069 benign 해석 →
A282T Uncertain significance 0.123 benign 해석 →
A321V Uncertain significance 0.108 benign 해석 →
A327V Uncertain significance 0.107 benign 해석 →
A358V not provided 0.910 pathogenic 해석 →
A364P not provided 0.998 pathogenic 해석 →
A364T not provided 0.233 benign 해석 →
A364V not provided 0.671 pathogenic 해석 →
A57T Uncertain significance 0.132 benign 해석 →
A67G Uncertain significance 0.139 benign 해석 →
A71T not provided 0.101 benign 해석 →
A96P Uncertain significance 0.928 pathogenic 해석 →
A96V Conflicting classifications of pathogeni 0.085 benign 해석 →
A99D Uncertain significance 0.456 ambiguous 해석 →
C294* Uncertain significance — 미적재 해석 →
D114E Benign/Likely benign 0.173 benign ✓ 해석 →
D142H Uncertain significance 0.790 pathogenic 해석 →
D157N Benign 0.140 benign ✓ 해석 →
D177G Uncertain significance 0.413 ambiguous 해석 →
D266E Uncertain significance 0.259 benign 해석 →
D295N Benign 0.343 ambiguous 해석 →
D351H not provided 0.765 pathogenic 해석 →
D417A not provided 0.776 pathogenic 해석 →
D417G Likely benign 0.440 ambiguous 해석 →
D51N Uncertain significance 0.285 benign 해석 →
D78N not provided 0.482 ambiguous 해석 →
E108G Uncertain significance 0.196 benign 해석 →
E166D Uncertain significance 0.287 benign 해석 →
E166K Uncertain significance 0.337 benign 해석 →
E166Q Uncertain significance 0.185 benign 해석 →
E175G Uncertain significance 0.201 benign 해석 →
E195V Uncertain significance 0.505 ambiguous 해석 →
E196* Uncertain significance — 미적재 해석 →
E196Q Uncertain significance 0.634 pathogenic 해석 →
E207K not provided 0.822 pathogenic 해석 →
E207Q not provided 0.589 pathogenic 해석 →
E210K not provided 0.575 pathogenic 해석 →
E213D Uncertain significance 0.093 benign 해석 →
E223V Uncertain significance 0.367 ambiguous 해석 →
E252A Uncertain significance 0.303 benign 해석 →
E254K Uncertain significance 0.555 ambiguous 해석 →
E255D Uncertain significance 0.113 benign 해석 →
E273* Uncertain significance — 미적재 해석 →
E273D Uncertain significance 0.106 benign 해석 →
E281* Uncertain significance — 미적재 해석 →
E281K Uncertain significance 0.557 ambiguous 해석 →
E297K Uncertain significance 0.837 pathogenic 해석 →
E304K Uncertain significance 0.486 ambiguous 해석 →
E307A Uncertain significance 0.305 benign 해석 →
E312* Uncertain significance — 미적재 해석 →
E312K Uncertain significance 0.561 ambiguous 해석 →
E312Q Uncertain significance 0.229 benign 해석 →
E314Q Uncertain significance 0.199 benign 해석 →
E326A Uncertain significance 0.113 benign 해석 →
E326Q Likely benign 0.158 benign ✓ 해석 →
E371G not provided 0.907 pathogenic 해석 →
E371Q not provided 0.819 pathogenic 해석 →
E371V not provided 0.971 pathogenic 해석 →
E373A not provided 0.972 pathogenic 해석 →
E373Q not provided 0.940 pathogenic 해석 →
E374G not provided 0.891 pathogenic 해석 →
E391K Uncertain significance 0.824 pathogenic 해석 →
E401D Uncertain significance 0.116 benign 해석 →
E419G Uncertain significance 0.610 pathogenic 해석 →
E64D Uncertain significance 0.185 benign 해석 →
E72K not provided 0.557 ambiguous 해석 →
E75K Uncertain significance 0.580 pathogenic 해석 →
E85K Uncertain significance 0.899 pathogenic 해석 →
F261S Uncertain significance 0.904 pathogenic 해석 →
F80S not provided 0.999 pathogenic 해석 →
F89L Uncertain significance 0.811 pathogenic 해석 →
G23A Uncertain significance 0.082 benign 해석 →
G24S Uncertain significance 0.074 benign 해석 →
G301D Uncertain significance 0.912 pathogenic 해석 →
G301R Uncertain significance 0.947 pathogenic 해석 →
G335R Conflicting classifications of pathogeni 0.488 ambiguous 해석 →
G335V Uncertain significance 0.174 benign 해석 →
G372D Uncertain significance 0.970 pathogenic 해석 →
G402S Uncertain significance 0.093 benign 해석 →
G418R Uncertain significance 0.876 pathogenic 해석 →
H251R Uncertain significance 0.072 benign 해석 →
H280Q Uncertain significance 0.117 benign 해석 →
H403Y Uncertain significance 0.134 benign 해석 →
I197N Uncertain significance 0.392 ambiguous 해석 →
I203V Uncertain significance 0.110 benign 해석 →
I363F Uncertain significance 0.994 pathogenic 해석 →
I363M Uncertain significance 0.909 pathogenic 해석 →
I379V Uncertain significance 0.106 benign 해석 →
I421T Uncertain significance 0.879 pathogenic 해석 →
K228E Uncertain significance 0.643 pathogenic 해석 →
K236T not provided 0.410 ambiguous 해석 →
K279E not provided 0.847 pathogenic 해석 →
K368Q Uncertain significance 0.737 pathogenic 해석 →
K425R Uncertain significance 0.076 benign 해석 →
K63Q not provided 0.182 benign 해석 →
K86E not provided 0.950 pathogenic 해석 →
K86R not provided 0.241 benign 해석 →
L101P Uncertain significance 0.990 pathogenic 해석 →
L120M Uncertain significance 0.144 benign 해석 →
L120P Uncertain significance 0.985 pathogenic 해석 →
L130V Likely benign 0.089 benign ✓ 해석 →
L163P Uncertain significance 0.793 pathogenic 해석 →
L200S Uncertain significance 0.782 pathogenic 해석 →
L215V Uncertain significance 0.090 benign 해석 →
L224P Uncertain significance 0.376 ambiguous 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.