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

SLC6A3: AM vs ClinVar 일치도

172 변이
✓ 둘 다 병원성
5
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
161
AM ↔ ClinVar 비교 가능 변이 11건 중 11건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C463* Pathogenic — 미적재 해석 →
G386R Likely pathogenic 0.950 pathogenic ✓ 해석 →
L224P Pathogenic 0.885 pathogenic ✓ 해석 →
L368Q Pathogenic 0.964 pathogenic ✓ 해석 →
P395L Pathogenic 0.889 pathogenic ✓ 해석 →
R521W Conflicting classifications of pathogeni 0.373 ambiguous 해석 →
R588* Pathogenic — 미적재 해석 →
R60W Conflicting classifications of pathogeni 0.915 pathogenic 해석 →
R85W Likely pathogenic 0.957 pathogenic ✓ 해석 →
A129T Likely benign 0.249 benign ✓ 해석 →
A16G Uncertain significance 0.110 benign 해석 →
A16S Uncertain significance 0.093 benign 해석 →
A192T Uncertain significance 0.062 benign 해석 →
A214V Uncertain significance 0.157 benign 해석 →
A296T Uncertain significance 0.175 benign 해석 →
A308V Uncertain significance 0.136 benign 해석 →
A331P Uncertain significance 0.989 pathogenic 해석 →
A346T Likely benign 0.418 ambiguous 해석 →
A346V Uncertain significance 0.699 pathogenic 해석 →
A406T Uncertain significance 0.086 benign 해석 →
A423T Uncertain significance 0.490 ambiguous 해석 →
A455V Uncertain significance 0.077 benign 해석 →
A550T Uncertain significance 0.061 benign 해석 →
A559G Uncertain significance 0.069 benign 해석 →
A559T Uncertain significance 0.062 benign 해석 →
A559V Conflicting classifications of pathogeni 0.063 benign 해석 →
A565S Uncertain significance 0.134 benign 해석 →
A57V Uncertain significance 0.065 benign 해석 →
A592V Uncertain significance 0.186 benign 해석 →
A594S Uncertain significance 0.138 benign 해석 →
D196N Uncertain significance 0.061 benign 해석 →
D206H Uncertain significance 0.076 benign 해석 →
D292E Uncertain significance 0.134 benign 해석 →
D292G Uncertain significance 0.176 benign 해석 →
D555N Uncertain significance 0.068 benign 해석 →
D600E Likely benign 0.081 benign ✓ 해석 →
D600G Uncertain significance 0.135 benign 해석 →
E126Q Uncertain significance 0.109 benign 해석 →
E20* Uncertain significance — 미적재 해석 →
E20A Uncertain significance 0.082 benign 해석 →
E20L Uncertain significance 0.158 benign 해석 →
E20V Uncertain significance 0.098 benign 해석 →
E28Q Uncertain significance 0.104 benign 해석 →
E437D Uncertain significance 0.582 pathogenic 해석 →
E589V Uncertain significance 0.258 benign 해석 →
E598K Uncertain significance 0.187 benign 해석 →
E602G Uncertain significance 0.070 benign 해석 →
F362L Uncertain significance 0.871 pathogenic 해석 →
F534C Uncertain significance 0.290 benign 해석 →
G140R Uncertain significance 0.998 pathogenic 해석 →
G153S Uncertain significance 0.305 benign 해석 →
G195V Uncertain significance 0.078 benign 해석 →
G209R Uncertain significance 0.064 benign 해석 →
G209W Uncertain significance 0.129 benign 해석 →
G234V Uncertain significance 0.906 pathogenic 해석 →
G361S Uncertain significance 0.853 pathogenic 해석 →
G380R Uncertain significance 0.086 benign 해석 →
G468V Uncertain significance 0.994 pathogenic 해석 →
G481S Uncertain significance 0.201 benign 해석 →
G487R Uncertain significance 0.993 pathogenic 해석 →
G502R Uncertain significance 0.078 benign 해석 →
G561S Uncertain significance 0.766 pathogenic 해석 →
G94S Uncertain significance 0.701 pathogenic 해석 →
G96S Uncertain significance 0.760 pathogenic 해석 →
H165Y Uncertain significance 0.074 benign 해석 →
H547N Uncertain significance 0.079 benign 해석 →
H547Q Uncertain significance 0.085 benign 해석 →
H547Y Uncertain significance 0.078 benign 해석 →
I137M Uncertain significance 0.119 benign 해석 →
I137V Uncertain significance 0.059 benign 해석 →
I248V Uncertain significance 0.086 benign 해석 →
I312T Uncertain significance 0.263 benign 해석 →
I413V Uncertain significance 0.067 benign 해석 →
I435M Uncertain significance 0.072 benign 해석 →
I508L Uncertain significance 0.296 benign 해석 →
I540T Uncertain significance 0.122 benign 해석 →
I540V Uncertain significance 0.053 benign 해석 →
I595V Uncertain significance 0.062 benign 해석 →
K27N Uncertain significance 0.462 ambiguous 해석 →
K579R Uncertain significance 0.086 benign 해석 →
K619N Conflicting classifications of pathogeni 0.146 benign 해석 →
L104I Uncertain significance 0.096 benign 해석 →
L150V Uncertain significance 0.126 benign 해석 →
L167F Conflicting classifications of pathogeni 0.069 benign 해석 →
L240V Uncertain significance 0.338 benign 해석 →
L250M Uncertain significance 0.119 benign 해석 →
L518V Uncertain significance 0.080 benign 해석 →
L532V Uncertain significance 0.559 ambiguous 해석 →
M11I Uncertain significance 0.322 benign 해석 →
M11T Uncertain significance 0.179 benign 해석 →
M371L Uncertain significance 0.392 ambiguous 해석 →
M427T Uncertain significance 0.756 pathogenic 해석 →
N185S Uncertain significance 0.697 pathogenic 해석 →
N188S Uncertain significance 0.065 benign 해석 →
N22K Uncertain significance 0.106 benign 해석 →
N38K Uncertain significance 0.593 pathogenic 해석 →
P17Q Uncertain significance 0.115 benign 해석 →
P194S Uncertain significance 0.062 benign 해석 →
P236L Uncertain significance 0.114 benign 해석 →
P26L Conflicting classifications of pathogeni 0.110 benign 해석 →
P50L Uncertain significance 0.079 benign 해석 →
P545S Uncertain significance 0.150 benign 해석 →
Q122H Uncertain significance 0.996 pathogenic 해석 →
Q373R Conflicting classifications of pathogeni 0.077 benign 해석 →
Q509H Uncertain significance 0.154 benign 해석 →
R219C Uncertain significance 0.695 pathogenic 해석 →
R219H Uncertain significance 0.185 benign 해석 →
R237Q Likely benign 0.097 benign ✓ 해석 →
R237W Uncertain significance 0.403 ambiguous 해석 →
R295K Uncertain significance 0.064 benign 해석 →
R304Q Uncertain significance 0.111 benign 해석 →
R445H Uncertain significance 0.774 pathogenic 해석 →
R515Q Uncertain significance 0.091 benign 해석 →
R51Q Uncertain significance 0.065 benign 해석 →
R51W Uncertain significance 0.092 benign 해석 →
R588Q Uncertain significance 0.077 benign 해석 →
R601H Likely benign 0.068 benign ✓ 해석 →
R606K Uncertain significance 0.077 benign 해석 →
R60Q Uncertain significance 0.806 pathogenic 해석 →
R610C Uncertain significance 0.172 benign 해석 →
R610H Uncertain significance 0.111 benign 해석 →
R615C Uncertain significance 0.108 benign 해석 →
R615H Likely benign 0.074 benign ✓ 해석 →
S12P Uncertain significance 0.084 benign 해석 →
S190L Uncertain significance 0.085 benign 해석 →
S198R Uncertain significance 0.087 benign 해석 →
S202L Uncertain significance 0.065 benign 해석 →
S202W Uncertain significance 0.090 benign 해석 →
S299G Uncertain significance 0.104 benign 해석 →
S2G Uncertain significance 0.070 benign 해석 →
S333A Uncertain significance 0.109 benign 해석 →
S351F Uncertain significance 0.121 benign 해석 →
S460C Uncertain significance 0.225 benign 해석 →
S72F Uncertain significance 0.991 pathogenic 해석 →
T144M Uncertain significance 0.201 benign 해석 →
T173M Uncertain significance 0.069 benign 해석 →
T286I Uncertain significance 0.433 ambiguous 해석 →
T356M Uncertain significance 0.731 pathogenic 해석 →
T48S Uncertain significance 0.071 benign 해석 →
T613M Uncertain significance 0.150 benign 해석 →
V14M Uncertain significance 0.095 benign 해석 →
V158I Uncertain significance 0.136 benign 해석 →
V221M Uncertain significance 0.321 benign 해석 →
V24G Uncertain significance 0.084 benign 해석 →
V24M Uncertain significance 0.059 benign 해석 →
V259M Uncertain significance 0.766 pathogenic 해석 →
V275M Uncertain significance 0.102 benign 해석 →
V300I Uncertain significance 0.089 benign 해석 →
V324M Uncertain significance 0.568 pathogenic 해석 →
V348L Uncertain significance 0.070 benign 해석 →
V363I Uncertain significance 0.265 benign 해석 →
V363L Uncertain significance 0.891 pathogenic 해석 →
V364A Uncertain significance 0.838 pathogenic 해석 →
V364I Uncertain significance 0.082 benign 해석 →
V409M Uncertain significance 0.116 benign 해석 →
V464I Benign/Likely benign 0.077 benign ✓ 해석 →
V471I Uncertain significance 0.078 benign 해석 →
V535M Uncertain significance 0.194 benign 해석 →
V537M Uncertain significance 0.109 benign 해석 →
V55L Uncertain significance 0.070 benign 해석 →
V55M Uncertain significance 0.073 benign 해석 →
V609M Uncertain significance 0.282 benign 해석 →
V620M Uncertain significance 0.208 benign 해석 →
V73I Uncertain significance 0.124 benign 해석 →
V83I Uncertain significance 0.106 benign 해석 →
V8M Uncertain significance 0.096 benign 해석 →
W617S Uncertain significance 0.773 pathogenic 해석 →
Y166C Uncertain significance 0.857 pathogenic 해석 →
Y470N Uncertain significance 0.892 pathogenic 해석 →
Y470S Uncertain significance 0.883 pathogenic 해석 →
M371V - 0.458 ambiguous 해석 →
S376G - 0.061 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.