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

DCHS2: AM vs ClinVar 일치도

173 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
65
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
3
— AM 미적재
105
AM ↔ ClinVar 비교 가능 변이 68건 중 65건 일치 / 3건 불일치 — 일치도 95.6%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1031V Uncertain significance 0.086 benign 해석 →
A1043T Uncertain significance 0.073 benign 해석 →
A1279T Uncertain significance 0.074 benign 해석 →
A1279V Likely benign 0.078 benign ✓ 해석 →
A1606T Benign 0.122 benign ✓ 해석 →
A1626V Benign 0.086 benign ✓ 해석 →
A1976S Likely benign 0.076 benign ✓ 해석 →
A353E Benign 0.126 benign ✓ 해석 →
A614V Benign 0.068 benign ✓ 해석 →
A755G Uncertain significance 0.373 ambiguous 해석 →
A795V Uncertain significance 0.766 pathogenic 해석 →
A952T Uncertain significance 0.187 benign 해석 →
A978T Benign 0.067 benign ✓ 해석 →
A997T Uncertain significance 0.149 benign 해석 →
D1186V Uncertain significance 0.702 pathogenic 해석 →
D170E Likely benign 0.125 benign ✓ 해석 →
D718E Uncertain significance 0.250 benign 해석 →
D731N Benign 0.301 benign ✓ 해석 →
D782Y Uncertain significance 0.087 benign 해석 →
D799H Uncertain significance 0.970 pathogenic 해석 →
E1056D Uncertain significance 0.294 benign 해석 →
E1074Q Uncertain significance 0.108 benign 해석 →
E10Q Likely benign 0.085 benign ✓ 해석 →
E10Q Likely benign 0.085 benign ✓ 해석 →
E1184K Uncertain significance 0.114 benign 해석 →
E1201K Uncertain significance 0.076 benign 해석 →
E1201Q Uncertain significance 0.088 benign 해석 →
E2050K Benign 0.062 benign ✓ 해석 →
E2050Q Benign 0.061 benign ✓ 해석 →
E699A Uncertain significance 0.148 benign 해석 →
E789K Uncertain significance 0.140 benign 해석 →
E964D Uncertain significance 0.278 benign 해석 →
F771S Uncertain significance 0.975 pathogenic 해석 →
F979S Uncertain significance 0.940 pathogenic 해석 →
G1042A Uncertain significance 0.081 benign 해석 →
G1059S Uncertain significance 0.520 ambiguous 해석 →
G123C Likely benign 0.980 pathogenic ⚠ 해석 →
G1270S Uncertain significance 0.359 ambiguous 해석 →
G1459R Uncertain significance 0.824 pathogenic 해석 →
G2615S Benign 0.338 benign ✓ 해석 →
G312S Uncertain significance 0.169 benign 해석 →
G61S Uncertain significance 0.105 benign 해석 →
G61S Uncertain significance 0.105 benign 해석 →
G921V Uncertain significance 0.203 benign 해석 →
H1061Q Uncertain significance 0.092 benign 해석 →
H1109R Uncertain significance 0.069 benign 해석 →
H3088Y Benign 0.081 benign ✓ 해석 →
H768R Benign 0.065 benign ✓ 해석 →
H768Y Uncertain significance 0.074 benign 해석 →
H940Q Likely benign 0.473 ambiguous 해석 →
I1028M Uncertain significance 0.075 benign 해석 →
I1178V Uncertain significance 0.104 benign 해석 →
I802V Uncertain significance 0.069 benign 해석 →
I821V Uncertain significance 0.067 benign 해석 →
I828V Uncertain significance 0.120 benign 해석 →
I988L Uncertain significance 0.141 benign 해석 →
K1075T Uncertain significance 0.121 benign 해석 →
K2930R Benign 0.079 benign ✓ 해석 →
K746R Uncertain significance 0.070 benign 해석 →
K746T Uncertain significance 0.152 benign 해석 →
K922R Uncertain significance 0.071 benign 해석 →
L1049V Uncertain significance 0.076 benign 해석 →
L1097F Uncertain significance 0.099 benign 해석 →
L1097V Uncertain significance 0.085 benign 해석 →
L1120V Uncertain significance 0.088 benign 해석 →
L1298V Benign 0.076 benign ✓ 해석 →
L1514F Benign 0.055 benign ✓ 해석 →
L22F Benign 0.072 benign ✓ 해석 →
L22F Benign 0.072 benign ✓ 해석 →
L2507* Likely benign — 미적재 해석 →
L280R Uncertain significance 0.610 pathogenic 해석 →
L742P Benign 0.701 pathogenic ⚠ 해석 →
L948F Uncertain significance 0.293 benign 해석 →
L998M Uncertain significance 0.256 benign 해석 →
M1103I Likely benign 0.069 benign ✓ 해석 →
M1103T Uncertain significance 0.499 ambiguous 해석 →
M1132I Likely benign 0.107 benign ✓ 해석 →
M596I Uncertain significance 0.119 benign 해석 →
M845I Uncertain significance 0.170 benign 해석 →
N1330D Uncertain significance 0.220 benign 해석 →
N1352S Benign 0.048 benign ✓ 해석 →
N2977H Benign 0.209 benign ✓ 해석 →
N973S Uncertain significance 0.396 ambiguous 해석 →
P1021Q Likely benign 0.075 benign ✓ 해석 →
P1062T Uncertain significance 0.150 benign 해석 →
P1080L Uncertain significance 0.094 benign 해석 →
P1110L Uncertain significance 0.068 benign 해석 →
P1119L Uncertain significance 0.069 benign 해석 →
P1137S Uncertain significance 0.108 benign 해석 →
P1204T Uncertain significance 0.077 benign 해석 →
P1295S Uncertain significance 0.207 benign 해석 →
P1325L Likely benign 0.061 benign ✓ 해석 →
P209S Benign 0.085 benign ✓ 해석 →
P3069L Likely benign 0.088 benign ✓ 해석 →
P3131L Benign 0.185 benign ✓ 해석 →
P3297L Benign 0.127 benign ✓ 해석 →
P769L Uncertain significance 0.681 pathogenic 해석 →
P937R Uncertain significance 0.100 benign 해석 →
P937T Uncertain significance 0.091 benign 해석 →
Q1171P Uncertain significance 0.096 benign 해석 →
Q2882K Benign 0.094 benign ✓ 해석 →
Q593E Benign 0.068 benign ✓ 해석 →
Q593K Uncertain significance 0.081 benign 해석 →
Q951L Uncertain significance 0.185 benign 해석 →
R1002L Uncertain significance 0.153 benign 해석 →
R1145L Uncertain significance 0.165 benign 해석 →
R1254S Uncertain significance 0.472 ambiguous 해석 →
R1269C Uncertain significance 0.082 benign 해석 →
R1269H Likely benign 0.056 benign ✓ 해석 →
R1269L Uncertain significance 0.113 benign 해석 →
R136Q Uncertain significance 0.118 benign 해석 →
R15Q Benign 0.080 benign ✓ 해석 →
R15Q Benign 0.080 benign ✓ 해석 →
R166C Benign 0.123 benign ✓ 해석 →
R166G Benign 0.120 benign ✓ 해석 →
R1802Q Benign 0.082 benign ✓ 해석 →
R187L Likely benign 0.133 benign ✓ 해석 →
R1893L Benign 0.641 pathogenic ⚠ 해석 →
R263W Likely benign 0.098 benign ✓ 해석 →
R2692C Benign 0.091 benign ✓ 해석 →
R3018S Benign 0.345 ambiguous 해석 →
R3044W Likely benign 0.103 benign ✓ 해석 →
R425L Likely benign 0.105 benign ✓ 해석 →
R528W Benign 0.095 benign ✓ 해석 →
R716Q Likely benign 0.059 benign ✓ 해석 →
R732G Uncertain significance 0.373 ambiguous 해석 →
R734S Uncertain significance 0.158 benign 해석 →
S1397F Uncertain significance 0.125 benign 해석 →
S140G Likely benign 0.102 benign ✓ 해석 →
S1660L Benign 0.089 benign ✓ 해석 →
S2572A Benign 0.091 benign ✓ 해석 →
S2758N Benign 0.072 benign ✓ 해석 →
S843L Benign 0.072 benign ✓ 해석 →
S989Y Uncertain significance 0.156 benign 해석 →
T1935R Benign 0.065 benign ✓ 해석 →
T1973P Benign 0.101 benign ✓ 해석 →
T2156I Benign 0.171 benign ✓ 해석 →
T3186I Benign 0.088 benign ✓ 해석 →
T3336M Likely benign 0.098 benign ✓ 해석 →
T620A Benign 0.060 benign ✓ 해석 →
T778M Uncertain significance 0.082 benign 해석 →
T824I Uncertain significance 0.112 benign 해석 →
T870A Likely benign 0.060 benign ✓ 해석 →
T882I Uncertain significance 0.112 benign 해석 →
T942A Likely benign 0.068 benign ✓ 해석 →
V1072F Likely benign 0.098 benign ✓ 해석 →
V1072I Uncertain significance 0.080 benign 해석 →
V1091M Uncertain significance 0.148 benign 해석 →
V1160A Uncertain significance 0.187 benign 해석 →
V1200I Uncertain significance 0.090 benign 해석 →
V1250M Uncertain significance 0.100 benign 해석 →
V1264M Uncertain significance 0.221 benign 해석 →
V1282A Uncertain significance 0.436 ambiguous 해석 →
V1282I Benign 0.072 benign ✓ 해석 →
V1284I Uncertain significance 0.077 benign 해석 →
V1305M Uncertain significance 0.124 benign 해석 →
V1307I Uncertain significance 0.105 benign 해석 →
V190G Benign 0.040 benign ✓ 해석 →
V2462A Benign 0.065 benign ✓ 해석 →
V759A Uncertain significance 0.545 ambiguous 해석 →
V885L Uncertain significance 0.166 benign 해석 →
V946A Benign 0.083 benign ✓ 해석 →
V950L Benign 0.232 benign ✓ 해석 →
Y1138H Uncertain significance 0.078 benign 해석 →
Y808F Uncertain significance 0.145 benign 해석 →
Y881N Uncertain significance 0.756 pathogenic 해석 →
Y886F Uncertain significance 0.124 benign 해석 →
A614E - 0.176 benign 해석 →
A978S - 0.083 benign 해석 →
E2050* - — 미적재 해석 →
E3241Q - 0.145 benign 해석 →
G705R - 0.400 ambiguous 해석 →
N1352K - 0.360 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.