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

AHNAK: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
39
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
2
— AM 미적재
459
AM ↔ ClinVar 비교 가능 변이 41건 중 39건 일치 / 2건 불일치 — 일치도 95.1%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1153S Uncertain significance 0.112 benign 해석 →
A1432V Uncertain significance 0.125 benign 해석 →
A1496V Uncertain significance 0.100 benign 해석 →
A1617D Uncertain significance 0.576 pathogenic 해석 →
A1778V Conflicting classifications of pathogeni 0.136 benign 해석 →
A1873V Likely benign 0.048 benign ✓ 해석 →
A214T Uncertain significance 0.071 benign 해석 →
A2165E Uncertain significance 0.565 pathogenic 해석 →
A226P Uncertain significance 0.103 benign 해석 →
A2576V Uncertain significance 0.162 benign 해석 →
A2624D Likely benign 0.400 ambiguous 해석 →
A3200T Uncertain significance 0.164 benign 해석 →
A3200V Uncertain significance 0.263 benign 해석 →
A327T Uncertain significance 0.094 benign 해석 →
A333V Uncertain significance 0.089 benign 해석 →
A3453P Uncertain significance 0.211 benign 해석 →
A3588V Likely benign 0.081 benign ✓ 해석 →
A3742S Likely benign 0.095 benign ✓ 해석 →
A3742T Uncertain significance 0.065 benign 해석 →
A389T Uncertain significance 0.073 benign 해석 →
A4032V Uncertain significance 0.110 benign 해석 →
A4046T Uncertain significance 0.085 benign 해석 →
A4238G Likely benign 0.086 benign ✓ 해석 →
A4302T Uncertain significance 0.078 benign 해석 →
A4356S Uncertain significance 0.117 benign 해석 →
A4366E Uncertain significance 0.469 ambiguous 해석 →
A444T Uncertain significance 0.063 benign 해석 →
A4679S Uncertain significance 0.148 benign 해석 →
A4702V Uncertain significance 0.294 benign 해석 →
A4718S Likely benign 0.113 benign ✓ 해석 →
A4830S Uncertain significance 0.141 benign 해석 →
A4927T Likely benign 0.073 benign ✓ 해석 →
A4984V Uncertain significance 0.125 benign 해석 →
A5138V Uncertain significance 0.101 benign 해석 →
A5170T Uncertain significance 0.068 benign 해석 →
A5229T Uncertain significance 0.104 benign 해석 →
A5257S Uncertain significance 0.095 benign 해석 →
A5326V Conflicting classifications of pathogeni 0.118 benign 해석 →
A5538V Uncertain significance 0.079 benign 해석 →
A5570T Uncertain significance 0.080 benign 해석 →
A5570V Likely benign 0.051 benign ✓ 해석 →
A5637P Uncertain significance 0.255 benign 해석 →
A5637S Uncertain significance 0.087 benign 해석 →
A5693T Uncertain significance 0.093 benign 해석 →
A579V Uncertain significance 0.095 benign 해석 →
A580T Likely benign 0.063 benign ✓ 해석 →
A764V Uncertain significance 0.121 benign 해석 →
C1833Y Uncertain significance 0.257 benign 해석 →
C1900S Conflicting classifications of pathogeni 0.438 ambiguous 해석 →
C1967Y Uncertain significance 0.417 ambiguous 해석 →
C2806Y Benign 0.187 benign ✓ 해석 →
D1086G Uncertain significance 0.163 benign 해석 →
D1100E Uncertain significance 0.120 benign 해석 →
D117H Uncertain significance 0.328 benign 해석 →
D1214N Uncertain significance 0.155 benign 해석 →
D1239V Uncertain significance 0.114 benign 해석 →
D1275N Uncertain significance 0.114 benign 해석 →
D1291G Uncertain significance 0.136 benign 해석 →
D1291Y Uncertain significance 0.228 benign 해석 →
D1296N Uncertain significance 0.107 benign 해석 →
D1342A Uncertain significance 0.155 benign 해석 →
D1403E Uncertain significance 0.248 benign 해석 →
D1493Y Uncertain significance 0.264 benign 해석 →
D1596H Uncertain significance 0.336 benign 해석 →
D1628N Uncertain significance 0.091 benign 해석 →
D1657Y Uncertain significance 0.315 benign 해석 →
D1659N Uncertain significance 0.155 benign 해석 →
D1672E Uncertain significance 0.217 benign 해석 →
D1688G Uncertain significance 0.136 benign 해석 →
D1705G Likely benign 0.046 benign ✓ 해석 →
D1816G Uncertain significance 0.187 benign 해석 →
D1872N Uncertain significance 0.125 benign 해석 →
D1969E Likely benign 0.262 benign ✓ 해석 →
D2036G Uncertain significance 0.258 benign 해석 →
D2038E Uncertain significance 0.150 benign 해석 →
D2076N Uncertain significance 0.160 benign 해석 →
D2085N Uncertain significance 0.147 benign 해석 →
D2157E Uncertain significance 0.249 benign 해석 →
D2157N Uncertain significance 0.136 benign 해석 →
D2164V Uncertain significance 0.304 benign 해석 →
D2228V Uncertain significance 0.138 benign 해석 →
D2280H Uncertain significance 0.269 benign 해석 →
D2392Y Uncertain significance 0.258 benign 해석 →
D2583G Uncertain significance 0.334 benign 해석 →
D2596N Uncertain significance 0.133 benign 해석 →
D2626G Uncertain significance 0.198 benign 해석 →
D266A Uncertain significance 0.134 benign 해석 →
D2726Y Uncertain significance 0.356 ambiguous 해석 →
D2882H Uncertain significance 0.377 ambiguous 해석 →
D2889Y Uncertain significance 0.391 ambiguous 해석 →
D2980G Uncertain significance 0.197 benign 해석 →
D2980N Uncertain significance 0.121 benign 해석 →
D2982V Uncertain significance 0.335 benign 해석 →
D2998H Uncertain significance 0.350 ambiguous 해석 →
D3010N Uncertain significance 0.133 benign 해석 →
D3171E Uncertain significance 0.423 ambiguous 해석 →
D3171G Uncertain significance 0.381 ambiguous 해석 →
D3261V Uncertain significance 0.176 benign 해석 →
D3386G Uncertain significance 0.359 ambiguous 해석 →
D3493E Uncertain significance 0.104 benign 해석 →
D3516N Uncertain significance 0.074 benign 해석 →
D3562A Uncertain significance 0.180 benign 해석 →
D3585G Uncertain significance 0.209 benign 해석 →
D3644H Uncertain significance 0.177 benign 해석 →
D3651H Uncertain significance 0.205 benign 해석 →
D3823H Uncertain significance 0.442 ambiguous 해석 →
D3832V Uncertain significance 0.180 benign 해석 →
D4050G Uncertain significance 0.134 benign 해석 →
D4135E Uncertain significance 0.313 benign 해석 →
D4157N Uncertain significance 0.101 benign 해석 →
D419N Uncertain significance 0.081 benign 해석 →
D4216E Uncertain significance 0.223 benign 해석 →
D4230A Uncertain significance 0.171 benign 해석 →
D4301N Likely benign 0.077 benign ✓ 해석 →
D4304G Benign 0.147 benign ✓ 해석 →
D4344H Uncertain significance 0.386 ambiguous 해석 →
D4389E Uncertain significance 0.304 benign 해석 →
D4389G Uncertain significance 0.319 benign 해석 →
D4402H Uncertain significance 0.306 benign 해석 →
D4476V Uncertain significance 0.197 benign 해석 →
D4563H Uncertain significance 0.198 benign 해석 →
D4610N Uncertain significance 0.097 benign 해석 →
D4642E Uncertain significance 0.203 benign 해석 →
D4689V Uncertain significance 0.167 benign 해석 →
D4738N Uncertain significance 0.131 benign 해석 →
D4799H Uncertain significance 0.410 ambiguous 해석 →
D4829G Uncertain significance 0.292 benign 해석 →
D4868H Uncertain significance 0.237 benign 해석 →
D4884V Uncertain significance 0.138 benign 해석 →
D4969V Uncertain significance 0.309 benign 해석 →
D4997V Uncertain significance 0.313 benign 해석 →
D5061H Uncertain significance 0.338 benign 해석 →
D517G Uncertain significance 0.128 benign 해석 →
D5277G Uncertain significance 0.106 benign 해석 →
D5301N Uncertain significance 0.118 benign 해석 →
D5316H Uncertain significance 0.195 benign 해석 →
D5419N Uncertain significance 0.114 benign 해석 →
D5540N Uncertain significance 0.113 benign 해석 →
D5571H Uncertain significance 0.307 benign 해석 →
D5842N Uncertain significance 0.179 benign 해석 →
D611E Uncertain significance 0.162 benign 해석 →
D656H Uncertain significance 0.175 benign 해석 →
D744E Uncertain significance 0.133 benign 해석 →
D860N Conflicting classifications of pathogeni 0.107 benign 해석 →
D862G Uncertain significance 0.097 benign 해석 →
D974G Uncertain significance 0.137 benign 해석 →
E1014K Uncertain significance 0.101 benign 해석 →
E1093K Uncertain significance 0.094 benign 해석 →
E1116K Uncertain significance 0.080 benign 해석 →
E1303D Uncertain significance 0.117 benign 해석 →
E1679K Uncertain significance 0.095 benign 해석 →
E168K Uncertain significance 0.182 benign 해석 →
E1731A Uncertain significance 0.168 benign 해석 →
E1805Q Uncertain significance 0.122 benign 해석 →
E2094A Uncertain significance 0.237 benign 해석 →
E2176G Uncertain significance 0.245 benign 해석 →
E2210D Uncertain significance 0.306 benign 해석 →
E2210K Uncertain significance 0.175 benign 해석 →
E2292Q Uncertain significance 0.186 benign 해석 →
E2687Q Uncertain significance 0.194 benign 해석 →
E2861D Uncertain significance 0.172 benign 해석 →
E2910Q Uncertain significance 0.230 benign 해석 →
E3068K Uncertain significance 0.206 benign 해석 →
E3166Q Uncertain significance 0.271 benign 해석 →
E3169A Uncertain significance 0.223 benign 해석 →
E381K Uncertain significance 0.105 benign 해석 →
E4027K Uncertain significance 0.144 benign 해석 →
E4133K Uncertain significance 0.122 benign 해석 →
E4626K Likely benign 0.085 benign ✓ 해석 →
E4698K Likely benign 0.102 benign ✓ 해석 →
E4966K Uncertain significance 0.186 benign 해석 →
E5094V Uncertain significance 0.644 pathogenic 해석 →
E5116K Uncertain significance 0.108 benign 해석 →
E5132K Uncertain significance 0.144 benign 해석 →
E5156V Uncertain significance 0.265 benign 해석 →
E5274Q Uncertain significance 0.110 benign 해석 →
E5398K Uncertain significance 0.116 benign 해석 →
E5489Q Uncertain significance 0.132 benign 해석 →
E5760K Uncertain significance 0.185 benign 해석 →
E5890A Uncertain significance 0.207 benign 해석 →
E595G Uncertain significance 0.121 benign 해석 →
E798G Uncertain significance 0.096 benign 해석 →
F1395L Uncertain significance 0.649 pathogenic 해석 →
F1518Y Uncertain significance 0.327 benign 해석 →
F1567V Uncertain significance 0.315 benign 해석 →
F1821S Likely benign 0.047 benign ✓ 해석 →
F2112L Uncertain significance 0.790 pathogenic 해석 →
F2256I Uncertain significance 0.206 benign 해석 →
F2300L Benign 0.894 pathogenic ⚠ 해석 →
F2907L Uncertain significance 0.659 pathogenic 해석 →
F3733L Uncertain significance 0.562 ambiguous 해석 →
F4196I Uncertain significance 0.130 benign 해석 →
F439L Uncertain significance 0.774 pathogenic 해석 →
F5825I Uncertain significance 0.550 ambiguous 해석 →
F934L Uncertain significance 0.501 ambiguous 해석 →
G1013E Uncertain significance 0.298 benign 해석 →
G1048E Uncertain significance 0.358 ambiguous 해석 →
G1083R Uncertain significance 0.555 ambiguous 해석 →
G1206R Uncertain significance 0.731 pathogenic 해석 →
G1233A Uncertain significance 0.143 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.