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

MAOA: AM vs ClinVar 일치도

189 변이
✓ 둘 다 병원성
3
✓ 둘 다 양성
7
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
178
AM ↔ ClinVar 비교 가능 변이 11건 중 10건 일치 / 1건 불일치 — 일치도 90.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C266F Pathogenic 0.785 pathogenic ✓ 해석 →
E394Q Likely pathogenic 0.867 pathogenic ✓ 해석 →
K395* Pathogenic — 미적재 해석 →
Q296* Pathogenic — 미적재 해석 →
Q474* Likely pathogenic — 미적재 해석 →
R45W Pathogenic/Likely pathogenic 0.721 pathogenic ✓ 해석 →
V244I Likely pathogenic 0.146 benign ⚠ 해석 →
A111T Uncertain significance 0.087 benign 해석 →
A142S Uncertain significance 0.110 benign 해석 →
A146V Likely benign 0.257 benign ✓ 해석 →
A191V Uncertain significance 0.286 benign 해석 →
A456D Uncertain significance 0.992 pathogenic 해석 →
A483E Likely benign 0.205 benign ✓ 해석 →
A483K Uncertain significance 0.403 ambiguous 해석 →
A483T Uncertain significance 0.084 benign 해석 →
A483V Likely benign 0.121 benign ✓ 해석 →
A7V Uncertain significance 0.093 benign 해석 →
C165S Uncertain significance 0.600 pathogenic 해석 →
D141N Uncertain significance 0.075 benign 해석 →
D150N Uncertain significance 0.067 benign 해석 →
D248E Uncertain significance 0.255 benign 해석 →
D319A Uncertain significance 0.168 benign 해석 →
D46G Uncertain significance 0.125 benign 해석 →
D480E Uncertain significance 0.087 benign 해석 →
E159G Uncertain significance 0.128 benign 해석 →
E185D Uncertain significance 0.351 ambiguous 해석 →
E216G Uncertain significance 0.794 pathogenic 해석 →
E34Q Uncertain significance 0.096 benign 해석 →
E385K Uncertain significance 0.202 benign 해석 →
E399V Uncertain significance 0.218 benign 해석 →
E58K Uncertain significance 0.057 benign 해석 →
E5Q Uncertain significance 0.086 benign 해석 →
E87G Uncertain significance 0.085 benign 해석 →
E87K Uncertain significance 0.063 benign 해석 →
F208L Uncertain significance 0.962 pathogenic 해석 →
G235R Uncertain significance 0.135 benign 해석 →
G443S Uncertain significance 0.883 pathogenic 해석 →
G462D Uncertain significance 0.097 benign 해석 →
G464R Uncertain significance 0.173 benign 해석 →
G500S Uncertain significance 0.105 benign 해석 →
G50R Uncertain significance 0.984 pathogenic 해석 →
H246N Uncertain significance 0.095 benign 해석 →
H246Q Uncertain significance 0.127 benign 해석 →
H365R Uncertain significance 0.067 benign 해석 →
I119V Uncertain significance 0.061 benign 해석 →
I131V Uncertain significance 0.065 benign 해석 →
I161T Conflicting classifications of pathogeni 0.147 benign 해석 →
I19T Uncertain significance 0.377 ambiguous 해석 →
I256V Uncertain significance 0.058 benign 해석 →
I295M Uncertain significance 0.129 benign 해석 →
I304V Uncertain significance 0.178 benign 해석 →
I335V Uncertain significance 0.088 benign 해석 →
I368M Uncertain significance 0.061 benign 해석 →
I423V Uncertain significance 0.148 benign 해석 →
I471L Uncertain significance 0.125 benign 해석 →
I505T Uncertain significance 0.065 benign 해석 →
I55L Uncertain significance 0.088 benign 해석 →
I55V Uncertain significance 0.055 benign 해석 →
I86V Uncertain significance 0.077 benign 해석 →
K151I Uncertain significance 0.138 benign 해석 →
K199N Uncertain significance 0.598 pathogenic 해석 →
K311N Conflicting classifications of pathogeni 0.250 benign 해석 →
K316N Uncertain significance 0.488 ambiguous 해석 →
K317Q Uncertain significance 0.089 benign 해석 →
K440E Uncertain significance 0.079 benign 해석 →
K520R Conflicting classifications of pathogeni 0.062 benign 해석 →
K522E Uncertain significance 0.105 benign 해석 →
L122M Uncertain significance 0.119 benign 해석 →
L32S Uncertain significance 0.948 pathogenic 해석 →
L361V Uncertain significance 0.132 benign 해석 →
L376F Uncertain significance 0.250 benign 해석 →
L40V Uncertain significance 0.067 benign 해석 →
L523F Uncertain significance 0.064 benign 해석 →
L97P Uncertain significance 0.849 pathogenic 해석 →
M134I Uncertain significance 0.550 ambiguous 해석 →
M134V Uncertain significance 0.248 benign 해석 →
M1I Uncertain significance 0.187 benign 해석 →
M1R Uncertain significance 0.202 benign 해석 →
M1T Uncertain significance 0.203 benign 해석 →
M416I Conflicting classifications of pathogeni 0.542 ambiguous 해석 →
N125S Uncertain significance 0.175 benign 해석 →
N133K Uncertain significance 0.085 benign 해석 →
N181S Uncertain significance 0.165 benign 해석 →
N212I Uncertain significance 0.887 pathogenic 해석 →
N212S Conflicting classifications of pathogeni 0.166 benign 해석 →
N241K Uncertain significance 0.108 benign 해석 →
N271S Conflicting classifications of pathogeni 0.031 benign 해석 →
P299Q Uncertain significance 0.555 ambiguous 해석 →
P347S Uncertain significance 0.366 ambiguous 해석 →
P413S Uncertain significance 0.478 ambiguous 해석 →
P482A Uncertain significance 0.090 benign 해석 →
P482S Uncertain significance 0.140 benign 해석 →
Q237L Uncertain significance 0.109 benign 해석 →
Q384P Uncertain significance 0.056 benign 해석 →
Q418R Uncertain significance 0.066 benign 해석 →
R109W Uncertain significance 0.131 benign 해석 →
R129W Uncertain significance 0.264 benign 해석 →
R172Q Benign 0.056 benign ✓ 해석 →
R217Q Uncertain significance 0.224 benign 해석 →
R217W Uncertain significance 0.333 benign 해석 →
R229Q Uncertain significance 0.088 benign 해석 →
R229W Uncertain significance 0.192 benign 해석 →
R284K Likely benign 0.063 benign ✓ 해석 →
R297H Uncertain significance 0.195 benign 해석 →
R297Q Uncertain significance 0.242 benign 해석 →
R360Q Uncertain significance 0.072 benign 해석 →
R424C Uncertain significance 0.367 ambiguous 해석 →
R454Q Uncertain significance 0.576 pathogenic 해석 →
R45Q Uncertain significance 0.218 benign 해석 →
R526Q Uncertain significance 0.078 benign 해석 →
R526W Likely benign 0.099 benign ✓ 해석 →
R79C Uncertain significance 0.326 benign 해석 →
R79G Uncertain significance 0.628 pathogenic 해석 →
R79H Uncertain significance 0.212 benign 해석 →
R96H Uncertain significance 0.077 benign 해석 →
S478* Uncertain significance — 미적재 해석 →
S499C Uncertain significance 0.099 benign 해석 →
S94G Uncertain significance 0.077 benign 해석 →
T408K Uncertain significance 0.965 pathogenic 해석 →
T408M Uncertain significance 0.366 ambiguous 해석 →
T439A Uncertain significance 0.093 benign 해석 →
T487P Uncertain significance 0.084 benign 해석 →
T489N Uncertain significance 0.106 benign 해석 →
T509A Uncertain significance 0.064 benign 해석 →
T509I Likely benign 0.152 benign ✓ 해석 →
V189L Conflicting classifications of pathogeni 0.679 pathogenic 해석 →
V189M Uncertain significance 0.555 ambiguous 해석 →
V247I Conflicting classifications of pathogeni 0.064 benign 해석 →
V269I Uncertain significance 0.085 benign 해석 →
V37I Uncertain significance 0.068 benign 해석 →
V427L Uncertain significance 0.286 benign 해석 →
V427M Uncertain significance 0.157 benign 해석 →
V473A Uncertain significance 0.086 benign 해석 →
V481I Uncertain significance 0.075 benign 해석 →
V517L Uncertain significance 0.083 benign 해석 →
V517M Uncertain significance 0.110 benign 해석 →
V63A Uncertain significance 0.468 ambiguous 해석 →
V63I Uncertain significance 0.135 benign 해석 →
Y100H Conflicting classifications of pathogeni 0.122 benign 해석 →
Y106F Uncertain significance 0.125 benign 해석 →
A111S - 0.100 benign 해석 →
A272V - 0.805 pathogenic 해석 →
D319G - 0.078 benign 해석 →
D319N - 0.086 benign 해석 →
D319Y - 0.212 benign 해석 →
D480V - 0.095 benign 해석 →
D64E - 0.900 pathogenic 해석 →
E265V - 0.129 benign 해석 →
E458A - 0.353 ambiguous 해석 →
E458G - 0.564 ambiguous 해석 →
E58* - — 미적재 해석 →
G103V - 0.839 pathogenic 해석 →
G103W - 0.845 pathogenic 해석 →
G135V - 0.605 pathogenic 해석 →
G214D - 0.988 pathogenic 해석 →
G22D - 0.989 pathogenic 해석 →
G25A - 0.907 pathogenic 해석 →
G301V - 0.986 pathogenic 해석 →
G500V - 0.166 benign 해석 →
G50V - 0.989 pathogenic 해석 →
G66S - 0.952 pathogenic 해석 →
G67E - 0.994 pathogenic 해석 →
G71R - 0.993 pathogenic 해석 →
H187Q - 0.198 benign 해석 →
I304S - 0.853 pathogenic 해석 →
K102M - 0.226 benign 해석 →
K102N - 0.123 benign 해석 →
K168N - 0.124 benign 해석 →
K168N - 0.124 benign 해석 →
K199R - 0.076 benign 해석 →
K469* - — 미적재 해석 →
L40F - 0.242 benign 해석 →
N92S - 0.119 benign 해석 →
P342S - 0.372 ambiguous 해석 →
Q200K - 0.514 ambiguous 해석 →
Q225E - 0.150 benign 해석 →
R47K - 0.558 ambiguous 해석 →
R56S - 0.516 ambiguous 해석 →
S251G - 0.044 benign 해석 →
S27A - 0.061 benign 해석 →
S345* - — 미적재 해석 →
V39F - 0.373 ambiguous 해석 →
V449G - 0.840 pathogenic 해석 →
W116G - 0.411 ambiguous 해석 →
W152C - 0.946 pathogenic 해석 →
W196* - — 미적재 해석 →
W315C - 0.996 pathogenic 해석 →
W472* - — 미적재 해석 →
Y100* - — 미적재 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.