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

FGFR2: AM vs ClinVar 일치도

460 변이
✓ 둘 다 병원성
94
✓ 둘 다 양성
10
⚠ CV=병원성 / AM=양성
3
⚠ CV=양성 / AM=병원성
0
— AM 미적재
353
AM ↔ ClinVar 비교 가능 변이 107건 중 104건 일치 / 3건 불일치 — 일치도 97.2%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A172F Likely pathogenic 0.944 pathogenic ✓ 해석 →
A314S Conflicting classifications of pathogeni 0.130 benign 해석 →
A315S Pathogenic 0.265 benign ⚠ 해석 →
A337P Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
A344G Pathogenic 0.876 pathogenic ✓ 해석 →
A344P Pathogenic 0.998 pathogenic ✓ 해석 →
A362E Conflicting classifications of pathogeni 0.152 benign 해석 →
A362S Pathogenic 0.121 benign ⚠ 해석 →
A515V Pathogenic 0.994 pathogenic ✓ 해석 →
A628T Pathogenic 0.998 pathogenic ✓ 해석 →
A648T Pathogenic 0.976 pathogenic ✓ 해석 →
A674V Likely pathogenic 0.980 pathogenic ✓ 해석 →
C278F Pathogenic 0.999 pathogenic ✓ 해석 →
C278F Pathogenic 0.999 pathogenic ✓ 해석 →
C278L Likely pathogenic 0.999 pathogenic ✓ 해석 →
C278W Pathogenic 1.000 pathogenic ✓ 해석 →
C278Y Pathogenic 1.000 pathogenic ✓ 해석 →
C342F Pathogenic 0.999 pathogenic ✓ 해석 →
C342G Pathogenic 0.998 pathogenic ✓ 해석 →
C342G Pathogenic 0.998 pathogenic ✓ 해석 →
C342R Pathogenic 1.000 pathogenic ✓ 해석 →
C342S Pathogenic 1.000 pathogenic ✓ 해석 →
C342S Pathogenic 1.000 pathogenic ✓ 해석 →
C342S Pathogenic 1.000 pathogenic ✓ 해석 →
C342W Pathogenic 1.000 pathogenic ✓ 해석 →
C342Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C382R Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
C62R Likely pathogenic 0.996 pathogenic ✓ 해석 →
D321A Pathogenic 0.867 pathogenic ✓ 해석 →
D321E Conflicting classifications of pathogeni 0.719 pathogenic 해석 →
D321V Pathogenic 0.873 pathogenic ✓ 해석 →
D336G Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
D685Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
E325V Likely pathogenic 0.979 pathogenic ✓ 해석 →
E534K Likely pathogenic 1.000 pathogenic ✓ 해석 →
E565A Pathogenic/Likely pathogenic 0.982 pathogenic ✓ 해석 →
E565G Pathogenic/Likely pathogenic 0.982 pathogenic ✓ 해석 →
E565K Likely pathogenic 0.996 pathogenic ✓ 해석 →
F276V Pathogenic 0.988 pathogenic ✓ 해석 →
G271P Likely pathogenic 0.998 pathogenic ✓ 해석 →
G271V Pathogenic/Likely pathogenic 0.991 pathogenic ✓ 해석 →
G338E Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
G338R Pathogenic 0.995 pathogenic ✓ 해석 →
G338R Pathogenic 0.995 pathogenic ✓ 해석 →
G338W Pathogenic 0.999 pathogenic ✓ 해석 →
G384R Pathogenic 0.998 pathogenic ✓ 해석 →
G493W Likely pathogenic 1.000 pathogenic ✓ 해석 →
G663E Pathogenic 0.999 pathogenic ✓ 해석 →
I288N Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
I642K Likely pathogenic 1.000 pathogenic ✓ 해석 →
K292E Likely pathogenic 0.887 pathogenic ✓ 해석 →
K526E Pathogenic/Likely pathogenic 0.967 pathogenic ✓ 해석 →
K641R Pathogenic/Likely pathogenic 0.828 pathogenic ✓ 해석 →
K659N Pathogenic 0.998 pathogenic ✓ 해석 →
K659N Pathogenic 0.998 pathogenic ✓ 해석 →
L357S Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
L699S Likely pathogenic 0.959 pathogenic ✓ 해석 →
M391R Pathogenic 0.989 pathogenic ✓ 해석 →
N331I Likely pathogenic 0.991 pathogenic ✓ 해석 →
N549D Pathogenic 0.936 pathogenic ✓ 해석 →
N549H Pathogenic/Likely pathogenic 0.742 pathogenic ✓ 해석 →
N549L Likely pathogenic 0.897 pathogenic ✓ 해석 →
N549T Pathogenic 0.806 pathogenic ✓ 해석 →
P253F Pathogenic 0.991 pathogenic ✓ 해석 →
P253L Conflicting classifications of pathogeni 0.872 pathogenic 해석 →
P253R Pathogenic/Likely pathogenic 0.965 pathogenic ✓ 해석 →
Q289P Pathogenic 0.999 pathogenic ✓ 해석 →
R255Q Likely pathogenic 0.852 pathogenic ✓ 해석 →
R425Q Conflicting classifications of pathogeni 0.194 benign 해석 →
R573* Likely pathogenic — 미적재 해석 →
R664Q Likely pathogenic 0.989 pathogenic ✓ 해석 →
R678G Pathogenic/Likely pathogenic 0.971 pathogenic ✓ 해석 →
S252F Likely pathogenic 0.990 pathogenic ✓ 해석 →
S252W Pathogenic 0.992 pathogenic ✓ 해석 →
S267P Pathogenic 0.962 pathogenic ✓ 해석 →
S347C Pathogenic/Likely pathogenic 0.947 pathogenic ✓ 해석 →
S351C Pathogenic 0.560 ambiguous 해석 →
S354C Pathogenic 0.807 pathogenic ✓ 해석 →
S354F Pathogenic/Likely pathogenic 0.942 pathogenic ✓ 해석 →
S372C Pathogenic 0.381 ambiguous 해석 →
S702L Likely pathogenic 0.926 pathogenic ✓ 해석 →
T320A Pathogenic 0.539 ambiguous 해석 →
T341M Likely pathogenic 0.597 pathogenic ✓ 해석 →
T341P Pathogenic 0.991 pathogenic ✓ 해석 →
V359A Likely pathogenic 0.980 pathogenic ✓ 해석 →
V359F Pathogenic 0.989 pathogenic ✓ 해석 →
W290C Pathogenic 1.000 pathogenic ✓ 해석 →
W290C Pathogenic 1.000 pathogenic ✓ 해석 →
W290G Pathogenic 0.998 pathogenic ✓ 해석 →
W290L Likely pathogenic 0.997 pathogenic ✓ 해석 →
W290R Pathogenic 1.000 pathogenic ✓ 해석 →
W290R Pathogenic 1.000 pathogenic ✓ 해석 →
W290S Pathogenic 1.000 pathogenic ✓ 해석 →
W356G Conflicting classifications of pathogeni 0.972 pathogenic 해석 →
Y105C Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
Y281C Likely pathogenic 0.979 pathogenic ✓ 해석 →
Y308C Pathogenic/Likely pathogenic 0.600 pathogenic ✓ 해석 →
Y328C Pathogenic/Likely pathogenic 0.262 benign ⚠ 해석 →
Y340C Pathogenic 0.999 pathogenic ✓ 해석 →
Y340H Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
Y340N Pathogenic 0.999 pathogenic ✓ 해석 →
Y340S Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y375C Pathogenic/Likely pathogenic 0.720 pathogenic ✓ 해석 →
Y375F Conflicting classifications of pathogeni 0.178 benign 해석 →
Y381C Likely pathogenic 0.751 pathogenic ✓ 해석 →
Y381D Pathogenic 0.970 pathogenic ✓ 해석 →
Y381H Likely pathogenic 0.959 pathogenic ✓ 해석 →
Y586* Likely pathogenic — 미적재 해석 →
Y656H Likely pathogenic 0.994 pathogenic ✓ 해석 →
A109D Uncertain significance 0.524 ambiguous 해석 →
A127G Uncertain significance 0.134 benign 해석 →
A140T Uncertain significance 0.067 benign 해석 →
A140V Uncertain significance 0.094 benign 해석 →
A16T Uncertain significance 0.102 benign 해석 →
A266P Uncertain significance 0.987 pathogenic 해석 →
A315T Conflicting classifications of pathogeni 0.537 ambiguous 해석 →
A337T Uncertain significance 0.293 benign 해석 →
A355V Uncertain significance 0.955 pathogenic 해석 →
A362T Uncertain significance 0.153 benign 해석 →
A362V Uncertain significance 0.136 benign 해석 →
A371V Uncertain significance 0.088 benign 해석 →
A389T Uncertain significance 0.083 benign 해석 →
A389V Uncertain significance 0.090 benign 해석 →
A414T Uncertain significance 0.150 benign 해석 →
A461V Conflicting classifications of pathogeni 0.201 benign 해석 →
A498V Uncertain significance 0.985 pathogenic 해석 →
A511S Uncertain significance 0.092 benign 해석 →
A511T Uncertain significance 0.091 benign 해석 →
A53V Uncertain significance 0.076 benign 해석 →
A567T Uncertain significance 0.764 pathogenic 해석 →
A567V Uncertain significance 0.928 pathogenic 해석 →
A618T Uncertain significance 0.532 ambiguous 해석 →
A629V Uncertain significance 0.982 pathogenic 해석 →
A68T Uncertain significance 0.065 benign 해석 →
A68V Uncertain significance 0.081 benign 해석 →
A726G Uncertain significance 0.084 benign 해석 →
A97T Conflicting classifications of pathogeni 0.095 benign 해석 →
C398Y Uncertain significance 0.253 benign 해석 →
C554S Uncertain significance 0.901 pathogenic 해석 →
C62F Uncertain significance 0.972 pathogenic 해석 →
C790R Uncertain significance 0.680 pathogenic 해석 →
C790Y Uncertain significance 0.400 ambiguous 해석 →
C808R Uncertain significance 0.448 ambiguous 해석 →
C808W Uncertain significance 0.648 pathogenic 해석 →
D126N Uncertain significance 0.255 benign 해석 →
D132H Uncertain significance 0.900 pathogenic 해석 →
D304N Uncertain significance 0.080 benign 해석 →
D374N Uncertain significance 0.126 benign 해석 →
D456G Uncertain significance 0.178 benign 해석 →
D504E Uncertain significance 0.145 benign 해석 →
D521G Conflicting classifications of pathogeni 0.376 ambiguous 해석 →
D522V Uncertain significance 0.925 pathogenic 해석 →
D650G Uncertain significance 0.837 pathogenic 해석 →
D650V Uncertain significance 0.989 pathogenic 해석 →
D738N Uncertain significance 0.335 benign 해석 →
D75Y Uncertain significance 0.886 pathogenic 해석 →
D771N Uncertain significance 0.312 benign 해석 →
E141G Uncertain significance 0.165 benign 해석 →
E197Q Uncertain significance 0.253 benign 해석 →
E250G Uncertain significance 0.990 pathogenic 해석 →
E275Q Uncertain significance 0.138 benign 해석 →
E34V Uncertain significance 0.114 benign 해석 →
E37Q Uncertain significance 0.159 benign 해석 →
E433D Uncertain significance 0.053 benign 해석 →
E465G Uncertain significance 0.755 pathogenic 해석 →
E48A Uncertain significance 0.122 benign 해석 →
E525V Uncertain significance 0.964 pathogenic 해석 →
E585Q Uncertain significance 0.755 pathogenic 해석 →
E636G Uncertain significance 0.332 benign 해석 →
E718K Uncertain significance 0.961 pathogenic 해석 →
E718Q Uncertain significance 0.841 pathogenic 해석 →
E731K Uncertain significance 0.616 pathogenic 해석 →
E777K Uncertain significance 0.419 ambiguous 해석 →
E806K Conflicting classifications of pathogeni 0.153 benign 해석 →
F25S Uncertain significance 0.123 benign 해석 →
F328L Uncertain significance — 미적재 해석 →
F334Y Uncertain significance 0.210 benign 해석 →
F409V Uncertain significance 0.663 pathogenic 해석 →
G139S Uncertain significance 0.068 benign 해석 →
G182R Uncertain significance 0.329 benign 해석 →
G182W Uncertain significance 0.446 ambiguous 해석 →
G195R Uncertain significance 0.471 ambiguous 해석 →
G261R Uncertain significance 0.993 pathogenic 해석 →
G298C Uncertain significance 0.950 pathogenic 해석 →
G298D Uncertain significance 0.729 pathogenic 해석 →
G302R Uncertain significance 0.607 pathogenic 해석 →
G305R Uncertain significance 0.608 pathogenic 해석 →
G305V Uncertain significance 0.857 pathogenic 해석 →
G316E Uncertain significance 0.882 pathogenic 해석 →
G338K Uncertain significance 0.999 pathogenic 해석 →
G345D Uncertain significance 0.990 pathogenic 해석 →
G583A Uncertain significance 0.340 benign 해석 →
G701C Uncertain significance 0.969 pathogenic 해석 →
G96C Uncertain significance 0.386 ambiguous 해석 →
G96D Uncertain significance 0.082 benign 해석 →
G96V Conflicting classifications of pathogeni 0.230 benign 해석 →
H293Y Uncertain significance 0.470 ambiguous 해석 →
H353L Uncertain significance 0.785 pathogenic 해석 →
H544Q Uncertain significance 0.992 pathogenic 해석 →
H682R Uncertain significance 0.710 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.