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

ADCY5: AM vs ClinVar 일치도

478 변이
✓ 둘 다 병원성
23
✓ 둘 다 양성
27
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
4
— AM 미적재
424
AM ↔ ClinVar 비교 가능 변이 54건 중 50건 일치 / 4건 불일치 — 일치도 92.6%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A441V Likely pathogenic 0.992 pathogenic ✓ 해석 →
A726T Pathogenic 0.986 pathogenic ✓ 해석 →
C977* Pathogenic — 미적재 해석 →
D1015E Pathogenic 0.999 pathogenic ✓ 해석 →
D1015Y Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
D588N Likely pathogenic 0.963 pathogenic ✓ 해석 →
E1025A Likely pathogenic 0.998 pathogenic ✓ 해석 →
E1025G Likely pathogenic 0.996 pathogenic ✓ 해석 →
I460F Likely pathogenic 0.995 pathogenic ✓ 해석 →
I475M Pathogenic 0.939 pathogenic ✓ 해석 →
K691E Likely pathogenic 0.811 pathogenic ✓ 해석 →
K691M Likely pathogenic 0.883 pathogenic ✓ 해석 →
K691N Likely pathogenic 0.952 pathogenic ✓ 해석 →
M1029K Pathogenic 0.999 pathogenic ✓ 해석 →
M696T Likely pathogenic 0.931 pathogenic ✓ 해석 →
P527T Likely pathogenic 0.975 pathogenic ✓ 해석 →
Q1021* Likely pathogenic — 미적재 해석 →
Q875* Pathogenic — 미적재 해석 →
R1013C Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
R1208C Uncertain significance 0.998 pathogenic 해석 →
R1238W Pathogenic 0.989 pathogenic ✓ 해석 →
R412L Likely pathogenic 0.993 pathogenic ✓ 해석 →
R418G Likely pathogenic 0.999 pathogenic ✓ 해석 →
R418Q Pathogenic 0.992 pathogenic ✓ 해석 →
R418W Pathogenic 0.997 pathogenic ✓ 해석 →
R562H Likely pathogenic 0.997 pathogenic ✓ 해석 →
R695P Likely pathogenic 0.886 pathogenic ✓ 해석 →
R695W Likely pathogenic 0.547 ambiguous 해석 →
R727G Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
R760* Pathogenic — 미적재 해석 →
S223* Pathogenic — 미적재 해석 →
S421* Pathogenic/Likely pathogenic — 미적재 해석 →
W330* Likely pathogenic — 미적재 해석 →
Y233H Pathogenic 0.999 pathogenic ✓ 해석 →
Y888* Likely pathogenic — 미적재 해석 →
*1262C Uncertain significance — 미적재 해석 →
*1262S Uncertain significance — 미적재 해석 →
A1005T Uncertain significance 0.722 pathogenic 해석 →
A102T Conflicting classifications of pathogeni 0.539 ambiguous 해석 →
A1050T Uncertain significance 0.126 benign 해석 →
A1071V Uncertain significance 0.942 pathogenic 해석 →
A1075V Uncertain significance 0.948 pathogenic 해석 →
A1078T Uncertain significance 0.130 benign 해석 →
A1230T Uncertain significance 0.077 benign 해석 →
A1230V Uncertain significance 0.099 benign 해석 →
A141G Uncertain significance 0.065 benign 해석 →
A141V Uncertain significance 0.118 benign 해석 →
A143P Uncertain significance 0.076 benign 해석 →
A146V Uncertain significance 0.104 benign 해석 →
A169T Conflicting classifications of pathogeni 0.078 benign 해석 →
A197V Uncertain significance 0.091 benign 해석 →
A19T Conflicting classifications of pathogeni 0.075 benign 해석 →
A201V Uncertain significance 0.098 benign 해석 →
A211V Uncertain significance 0.150 benign 해석 →
A247V Likely benign 0.206 benign ✓ 해석 →
A277P Uncertain significance 0.903 pathogenic 해석 →
A291T Uncertain significance 0.072 benign 해석 →
A304T Conflicting classifications of pathogeni 0.077 benign 해석 →
A307V Uncertain significance 0.079 benign 해석 →
A325S Uncertain significance 0.316 benign 해석 →
A349S Uncertain significance 0.230 benign 해석 →
A370S Uncertain significance 0.077 benign 해석 →
A370T Uncertain significance 0.076 benign 해석 →
A407T Uncertain significance 0.870 pathogenic 해석 →
A407V Uncertain significance 0.951 pathogenic 해석 →
A450T Uncertain significance 0.232 benign 해석 →
A45T Uncertain significance 0.067 benign 해석 →
A499V Uncertain significance 0.996 pathogenic 해석 →
A506S Uncertain significance 0.075 benign 해석 →
A534G Uncertain significance 0.830 pathogenic 해석 →
A630T Conflicting classifications of pathogeni 0.071 benign 해석 →
A657T Conflicting classifications of pathogeni 0.247 benign 해석 →
A706T Conflicting classifications of pathogeni 0.063 benign 해석 →
A70P Conflicting classifications of pathogeni 0.080 benign 해석 →
A710G Likely benign 0.093 benign ✓ 해석 →
A710T Uncertain significance 0.068 benign 해석 →
A710V Benign 0.072 benign ✓ 해석 →
A768T Uncertain significance 0.160 benign 해석 →
A878S Conflicting classifications of pathogeni 0.112 benign 해석 →
A882V Conflicting classifications of pathogeni 0.071 benign 해석 →
A90T Uncertain significance 0.075 benign 해석 →
A920S Uncertain significance 0.165 benign 해석 →
A958T Uncertain significance 0.176 benign 해석 →
A964S Conflicting classifications of pathogeni 0.150 benign 해석 →
A964T Uncertain significance 0.277 benign 해석 →
A966T Uncertain significance 0.093 benign 해석 →
C111W Uncertain significance 0.203 benign 해석 →
C1237Y Uncertain significance 0.151 benign 해석 →
C209R Uncertain significance 0.726 pathogenic 해석 →
C288S Uncertain significance 0.671 pathogenic 해석 →
C395Y Uncertain significance 0.927 pathogenic 해석 →
C767W Uncertain significance 0.989 pathogenic 해석 →
C812R Uncertain significance 0.764 pathogenic 해석 →
C864F Uncertain significance 0.954 pathogenic 해석 →
D1015H Uncertain significance 0.999 pathogenic 해석 →
D1060E Likely benign 0.656 pathogenic ⚠ 해석 →
D109E Uncertain significance 0.094 benign 해석 →
D109E Uncertain significance 0.094 benign 해석 →
D109G Uncertain significance 0.111 benign 해석 →
D109V Uncertain significance 0.242 benign 해석 →
D109Y Benign/Likely benign 0.273 benign ✓ 해석 →
D110E Likely benign 0.131 benign ✓ 해석 →
D1114G Uncertain significance 0.211 benign 해석 →
D1137N Uncertain significance 0.142 benign 해석 →
D1153N Uncertain significance 0.449 ambiguous 해석 →
D1160H Uncertain significance 0.349 ambiguous 해석 →
D1210H Uncertain significance 0.997 pathogenic 해석 →
D1216N Uncertain significance 0.094 benign 해석 →
D186H Uncertain significance 0.123 benign 해석 →
D36N Uncertain significance 0.124 benign 해석 →
D372E Uncertain significance 0.752 pathogenic 해석 →
D372E Uncertain significance 0.752 pathogenic 해석 →
D447H Uncertain significance 0.995 pathogenic 해석 →
D583N Uncertain significance 0.999 pathogenic 해석 →
D617V Uncertain significance 0.909 pathogenic 해석 →
D703N Uncertain significance 0.240 benign 해석 →
D725N Uncertain significance 0.971 pathogenic 해석 →
D759N Likely benign 0.143 benign ✓ 해석 →
D76H Conflicting classifications of pathogeni 0.201 benign 해석 →
D77N Uncertain significance 0.115 benign 해석 →
D77V Uncertain significance 0.207 benign 해석 →
D78G Likely benign 0.093 benign ✓ 해석 →
D80H Uncertain significance 0.161 benign 해석 →
D87Y Conflicting classifications of pathogeni 0.141 benign 해석 →
D892N Conflicting classifications of pathogeni 0.069 benign 해석 →
D956N Conflicting classifications of pathogeni 0.281 benign 해석 →
D968Y Uncertain significance 0.140 benign 해석 →
E1025K Uncertain significance 0.999 pathogenic 해석 →
E1028K Uncertain significance 0.988 pathogenic 해석 →
E1092K Uncertain significance 0.970 pathogenic 해석 →
E1113G Uncertain significance 0.520 ambiguous 해석 →
E1248K Uncertain significance 0.559 ambiguous 해석 →
E157D Conflicting classifications of pathogeni 0.349 ambiguous 해석 →
E174K Uncertain significance 0.149 benign 해석 →
E327D Uncertain significance 0.284 benign 해석 →
E34Q Uncertain significance 0.195 benign 해석 →
E410D Uncertain significance 0.959 pathogenic 해석 →
E476K Likely benign 0.730 pathogenic ⚠ 해석 →
E546A Uncertain significance 0.876 pathogenic 해석 →
E619K Uncertain significance 0.238 benign 해석 →
E619Q Uncertain significance 0.155 benign 해석 →
E621G Uncertain significance 0.776 pathogenic 해석 →
E627K Uncertain significance 0.146 benign 해석 →
E634D Conflicting classifications of pathogeni 0.082 benign 해석 →
E692K Uncertain significance 0.913 pathogenic 해석 →
E708Q Uncertain significance 0.323 benign 해석 →
E715D Uncertain significance 0.843 pathogenic 해석 →
E746D Benign 0.232 benign ✓ 해석 →
E940K Conflicting classifications of pathogeni 0.736 pathogenic 해석 →
E979A Uncertain significance 0.093 benign 해석 →
F1074L Uncertain significance 1.000 pathogenic 해석 →
F1154C Uncertain significance 0.961 pathogenic 해석 →
F1253L Uncertain significance 0.991 pathogenic 해석 →
F216V Uncertain significance 0.904 pathogenic 해석 →
F334V Uncertain significance 0.794 pathogenic 해석 →
F805V Uncertain significance 0.264 benign 해석 →
F816L Uncertain significance 0.946 pathogenic 해석 →
F816V Uncertain significance 0.722 pathogenic 해석 →
F970L Uncertain significance 0.298 benign 해석 →
G107V Uncertain significance 0.217 benign 해석 →
G1093S Uncertain significance 0.999 pathogenic 해석 →
G112S Uncertain significance 0.086 benign 해석 →
G114S Uncertain significance 0.099 benign 해석 →
G1187R Uncertain significance 1.000 pathogenic 해석 →
G1200V Uncertain significance 1.000 pathogenic 해석 →
G121S Likely benign 0.109 benign ✓ 해석 →
G125A Uncertain significance 0.090 benign 해석 →
G126D Uncertain significance 0.170 benign 해석 →
G134S Conflicting classifications of pathogeni 0.108 benign 해석 →
G135A Uncertain significance 0.083 benign 해석 →
G136A Uncertain significance 0.088 benign 해석 →
G137R Uncertain significance 0.229 benign 해석 →
G138R Uncertain significance 0.244 benign 해석 →
G147S Uncertain significance 0.094 benign 해석 →
G176R Conflicting classifications of pathogeni 0.134 benign 해석 →
G181S Uncertain significance 0.084 benign 해석 →
G185E Uncertain significance 0.090 benign 해석 →
G25D Uncertain significance 0.188 benign 해석 →
G316V Likely benign 0.534 ambiguous 해석 →
G328C Uncertain significance 0.975 pathogenic 해석 →
G328S Conflicting classifications of pathogeni 0.770 pathogenic 해석 →
G3S Uncertain significance 0.091 benign 해석 →
G47A Uncertain significance 0.072 benign 해석 →
G47E Uncertain significance 0.126 benign 해석 →
G47W Uncertain significance 0.179 benign 해석 →
G52S Uncertain significance 0.078 benign 해석 →
G541S Uncertain significance 0.995 pathogenic 해석 →
G599S Uncertain significance 0.993 pathogenic 해석 →
G59R Uncertain significance 0.123 benign 해석 →
G626D Uncertain significance 0.411 ambiguous 해석 →
G686D Uncertain significance 0.323 benign 해석 →
G721A Uncertain significance 0.561 ambiguous 해석 →
G85R Uncertain significance 0.126 benign 해석 →
G973R Uncertain significance 0.271 benign 해석 →
H260R Uncertain significance 0.450 ambiguous 해석 →
H28Q Uncertain significance 0.152 benign 해석 →
H28Q Uncertain significance 0.152 benign 해석 →
H294Y Uncertain significance 0.251 benign 해석 →
H44N Likely benign 0.072 benign ✓ 해석 →
H44Y Benign/Likely benign 0.062 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.