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

ABCB1: AM vs ClinVar 일치도

217 변이
✓ 둘 다 병원성
2
✓ 둘 다 양성
12
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
203
AM ↔ ClinVar 비교 가능 변이 14건 중 14건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
G185V Pathogenic 0.954 pathogenic ✓ 해석 →
R794* Pathogenic — 미적재 해석 →
S893Y Likely pathogenic 0.711 pathogenic ✓ 해석 →
A1185D drug response 0.998 pathogenic 해석 →
A1217T drug response 0.665 pathogenic 해석 →
A1231T drug response 0.853 pathogenic 해석 →
A123V drug response 0.095 benign 해석 →
A1275V Uncertain significance 0.111 benign 해석 →
A220T Uncertain significance 0.395 ambiguous 해석 →
A248G Uncertain significance 0.279 benign 해석 →
A260S Uncertain significance 0.104 benign 해석 →
A266T drug response 0.348 ambiguous 해석 →
A266V Uncertain significance 0.593 pathogenic 해석 →
A301T drug response 0.085 benign 해석 →
A356V drug response 0.573 pathogenic 해석 →
A529T drug response 0.143 benign 해석 →
A542T drug response 0.856 pathogenic 해석 →
A641G Uncertain significance 0.085 benign 해석 →
A650D Uncertain significance 0.080 benign 해석 →
A828T Uncertain significance 0.386 ambiguous 해석 →
A82T drug response 0.094 benign 해석 →
A883T drug response 0.176 benign 해석 →
A985D drug response 0.994 pathogenic 해석 →
C1125G Uncertain significance 0.145 benign 해석 →
C1125S drug response 0.295 benign 해석 →
C1227S drug response 0.237 benign 해석 →
C717Y drug response 0.825 pathogenic 해석 →
D110N Uncertain significance 0.106 benign 해석 →
D1124N drug response 0.266 benign 해석 →
D454N drug response 0.400 ambiguous 해석 →
D596H drug response 0.526 ambiguous 해석 →
D657N drug response 0.077 benign 해석 →
D77V Uncertain significance 0.890 pathogenic 해석 →
D886N drug response 0.443 ambiguous 해석 →
E108* drug response — 미적재 해석 →
E1119K drug response 0.990 pathogenic 해석 →
E1129K Uncertain significance 0.327 benign 해석 →
E1159D Uncertain significance 0.098 benign 해석 →
E1201K drug response 0.998 pathogenic 해석 →
E1253G drug response 0.806 pathogenic 해석 →
E325K drug response 0.202 benign 해석 →
E448* drug response — 미적재 해석 →
E707V drug response 0.841 pathogenic 해석 →
E746K drug response 0.115 benign 해석 →
E972K Uncertain significance 0.427 ambiguous 해석 →
F1037L Uncertain significance 0.666 pathogenic 해석 →
F151L Uncertain significance 0.898 pathogenic 해석 →
F200L drug response 0.936 pathogenic 해석 →
F204L Uncertain significance 0.809 pathogenic 해석 →
F303Y drug response 0.248 benign 해석 →
F336S Uncertain significance 0.894 pathogenic 해석 →
F355Y drug response 0.602 pathogenic 해석 →
F777L Uncertain significance 0.963 pathogenic 해석 →
G1055R Uncertain significance 0.296 benign 해석 →
G1063C drug response 0.423 ambiguous 해석 →
G1075E drug response 0.996 pathogenic 해석 →
G1173R Uncertain significance 0.997 pathogenic 해석 →
G1249D drug response 0.957 pathogenic 해석 →
G1276R Uncertain significance 0.208 benign 해석 →
G203R drug response 0.996 pathogenic 해석 →
G211D Uncertain significance 0.949 pathogenic 해석 →
G251R drug response 0.978 pathogenic 해석 →
G341R drug response 0.996 pathogenic 해석 →
G420E drug response 0.506 ambiguous 해석 →
G432V drug response 0.994 pathogenic 해석 →
G534R drug response 0.978 pathogenic 해석 →
G600D Uncertain significance 0.963 pathogenic 해석 →
G62V drug response 0.991 pathogenic 해석 →
G714S drug response 0.799 pathogenic 해석 →
G737E Uncertain significance 0.631 pathogenic 해석 →
G781R drug response 0.951 pathogenic 해석 →
H1257Y Uncertain significance 0.865 pathogenic 해석 →
H587R Uncertain significance 0.988 pathogenic 해석 →
I1115T Uncertain significance 0.567 pathogenic 해석 →
I1154V Uncertain significance 0.170 benign 해석 →
I1186T Uncertain significance 0.964 pathogenic 해석 →
I1230V drug response 0.235 benign 해석 →
I160M Uncertain significance 0.093 benign 해석 →
I261V Benign 0.085 benign ✓ 해석 →
I352T Uncertain significance 0.567 pathogenic 해석 →
I409F drug response 0.770 pathogenic 해석 →
I488F Uncertain significance 0.924 pathogenic 해석 →
I541V Uncertain significance 0.261 benign 해석 →
I598V drug response 0.338 benign 해석 →
I692V Likely benign 0.071 benign ✓ 해석 →
I719V Uncertain significance 0.059 benign 해석 →
I731V Uncertain significance 0.122 benign 해석 →
I78T Likely benign 0.091 benign ✓ 해석 →
I849T Uncertain significance 0.893 pathogenic 해석 →
K1062R drug response 0.077 benign 해석 →
K1093E drug response 0.070 benign 해석 →
K1181* drug response — 미적재 해석 →
K1181N drug response 0.998 pathogenic 해석 →
K408R drug response 0.088 benign 해석 →
K433E drug response 0.995 pathogenic 해석 →
L1083V Uncertain significance 0.152 benign 해석 →
L19Q Uncertain significance 0.065 benign 해석 →
L258V drug response 0.306 benign 해석 →
L443I drug response 0.251 benign 해석 →
L46I Uncertain significance 0.089 benign 해석 →
L49F Uncertain significance 0.092 benign 해석 →
L49S Uncertain significance 0.241 benign 해석 →
L65F drug response 0.331 benign 해석 →
L757P Uncertain significance 0.961 pathogenic 해석 →
L968R Uncertain significance 0.105 benign 해석 →
M1010T Uncertain significance 0.079 benign 해석 →
M1027I drug response 0.129 benign 해석 →
M156I drug response 0.556 ambiguous 해석 →
M440I Uncertain significance 0.133 benign 해석 →
M653I Uncertain significance 0.095 benign 해석 →
M876R drug response 0.783 pathogenic 해석 →
M89I drug response 0.114 benign 해석 →
M89L Likely benign 0.073 benign ✓ 해석 →
M919K Uncertain significance 0.122 benign 해석 →
N183S Benign 0.077 benign ✓ 해석 →
N21D Likely benign; drug response 0.059 benign ✓ 해석 →
N387K drug response 0.104 benign 해석 →
N462K Uncertain significance 0.896 pathogenic 해석 →
N753D Uncertain significance 0.091 benign 해석 →
N84H drug response 0.103 benign 해석 →
P1048L drug response 0.163 benign 해석 →
P32T drug response 0.100 benign 해석 →
P385L drug response 0.102 benign 해석 →
P477S Uncertain significance 0.949 pathogenic 해석 →
P745L drug response 0.102 benign 해석 →
Q1054R Uncertain significance 0.067 benign 해석 →
Q1107P Benign/Likely benign 0.100 benign ✓ 해석 →
Q1118E Uncertain significance 0.663 pathogenic 해석 →
Q1175* drug response — 미적재 해석 →
Q1182* drug response — 미적재 해석 →
Q1193R Uncertain significance 0.083 benign 해석 →
Q1215K drug response 0.831 pathogenic 해석 →
Q530R Uncertain significance 0.510 ambiguous 해석 →
Q946* drug response — 미적재 해석 →
R1138W Uncertain significance 0.347 ambiguous 해석 →
R1183C Uncertain significance 0.942 pathogenic 해석 →
R1222T Uncertain significance 0.403 ambiguous 해석 →
R1225C Uncertain significance 0.409 ambiguous 해석 →
R1233C Uncertain significance 0.985 pathogenic 해석 →
R1250K drug response 0.068 benign 해석 →
R1279H Uncertain significance 0.103 benign 해석 →
R1279S Uncertain significance 0.200 benign 해석 →
R157Q Uncertain significance 0.100 benign 해석 →
R174Q Uncertain significance; drug response 0.471 ambiguous 해석 →
R210H Uncertain significance 0.161 benign 해석 →
R404* drug response — 미적재 해석 →
R442T drug response 0.993 pathogenic 해석 →
R543H drug response 0.940 pathogenic 해석 →
R588C drug response 0.914 pathogenic 해석 →
R659K Uncertain significance 0.079 benign 해석 →
R666K drug response 0.081 benign 해석 →
R669H Uncertain significance 0.098 benign 해석 →
R669L Uncertain significance 0.150 benign 해석 →
R670G Uncertain significance 0.096 benign 해석 →
R673C Uncertain significance 0.150 benign 해석 →
R789Q drug response 0.780 pathogenic 해석 →
R794Q drug response 0.075 benign 해석 →
S1022R Uncertain significance 0.472 ambiguous 해석 →
S1126I drug response 0.907 pathogenic 해석 →
S1141T Likely benign 0.077 benign ✓ 해석 →
S2C Uncertain significance — 미적재 해석 →
S309F Uncertain significance 0.916 pathogenic 해석 →
S323L Uncertain significance 0.164 benign 해석 →
S374N drug response 0.072 benign 해석 →
S400N Benign 0.130 benign ✓ 해석 →
S403C drug response 0.313 benign 해석 →
S419G drug response 0.074 benign 해석 →
S434R drug response 0.997 pathogenic 해석 →
S43L drug response 0.486 ambiguous 해석 →
S661N Uncertain significance 0.102 benign 해석 →
S671R Uncertain significance 0.399 ambiguous 해석 →
S893A Benign 0.050 benign ✓ 해석 →
S893T Benign 0.176 benign ✓ 해석 →
S923R Uncertain significance 0.427 ambiguous 해석 →
S931P drug response 0.976 pathogenic 해석 →
T1015N Uncertain significance 0.075 benign 해석 →
T101I drug response 0.133 benign 해석 →
T199I drug response 0.573 pathogenic 해석 →
T33I drug response 0.155 benign 해석 →
T460N drug response 0.075 benign 해석 →
T591A Uncertain significance 0.362 ambiguous 해석 →
T740I Uncertain significance 0.375 ambiguous 해석 →
T747I drug response 0.094 benign 해석 →
T747S drug response 0.123 benign 해석 →
T815A Uncertain significance 0.142 benign 해석 →
T93I Uncertain significance 0.223 benign 해석 →
V1060M drug response 0.355 ambiguous 해석 →
V1079M drug response 0.224 benign 해석 →
V1094G drug response 0.524 ambiguous 해석 →
V1191I drug response 0.083 benign 해석 →
V1214G drug response 0.963 pathogenic 해석 →
V1245M Uncertain significance 0.755 pathogenic 해석 →
V1251I Benign 0.077 benign ✓ 해석 →
V165M drug response 0.113 benign 해석 →
V168I drug response 0.103 benign 해석 →
V253I drug response 0.104 benign 해석 →
V34G drug response 0.603 pathogenic 해석 →
V495I Uncertain significance 0.110 benign 해석 →
V524I drug response 0.259 benign 해석 →
V546L Uncertain significance 0.520 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.