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

CACNA1C: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
40
✓ 둘 다 양성
7
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
2
— AM 미적재
450
AM ↔ ClinVar 비교 가능 변이 50건 중 47건 일치 / 3건 불일치 — 일치도 94%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1473G Likely pathogenic — 미적재 해석 →
A1473P Likely pathogenic — 미적재 해석 →
A2103S Conflicting classifications of pathogeni — 미적재 해석 →
A272V Likely pathogenic 0.928 pathogenic ✓ 해석 →
A39V Pathogenic 0.204 benign ⚠ 해석 →
A582D Pathogenic 0.957 pathogenic ✓ 해석 →
C1021R Conflicting classifications of pathogeni — 미적재 해석 →
D199N Pathogenic 0.999 pathogenic ✓ 해석 →
D446H Pathogenic 0.998 pathogenic ✓ 해석 →
D57N Conflicting classifications of pathogeni 0.408 ambiguous 해석 →
E1115K Pathogenic/Likely pathogenic — 미적재 해석 →
E1416K Likely pathogenic — 미적재 해석 →
E173Q Likely pathogenic 0.997 pathogenic ✓ 해석 →
E411D Likely pathogenic 0.985 pathogenic ✓ 해석 →
F166L Likely pathogenic 0.999 pathogenic ✓ 해석 →
F567L Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1047R Uncertain significance — 미적재 해석 →
G1163S Likely pathogenic — 미적재 해석 →
G1378R Pathogenic/Likely pathogenic — 미적재 해석 →
G1415R Conflicting classifications of pathogeni — 미적재 해석 →
G402S Pathogenic 0.945 pathogenic ✓ 해석 →
G402S Pathogenic 0.945 pathogenic ✓ 해석 →
G406R Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
G406R Pathogenic 0.987 pathogenic ✓ 해석 →
G406R Pathogenic 0.987 pathogenic ✓ 해석 →
G419R Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
G419R Likely pathogenic 0.992 pathogenic ✓ 해석 →
G490R Conflicting classifications of pathogeni 0.750 pathogenic 해석 →
G705E Pathogenic 0.997 pathogenic ✓ 해석 →
G856D Likely pathogenic 0.948 pathogenic ✓ 해석 →
I1029V Conflicting classifications of pathogeni 0.716 pathogenic 해석 →
I1166T Pathogenic — 미적재 해석 →
I1367M Conflicting classifications of pathogeni — 미적재 해석 →
I1367T Pathogenic/Likely pathogenic — 미적재 해석 →
I1475M Pathogenic — 미적재 해석 →
K1211E Conflicting classifications of pathogeni — 미적재 해석 →
K1513E Likely pathogenic — 미적재 해석 →
K263M Likely pathogenic 0.959 pathogenic ✓ 해석 →
K834E Uncertain significance 0.430 ambiguous 해석 →
L1289W Likely pathogenic — 미적재 해석 →
L1408V Pathogenic 0.863 pathogenic ✓ 해석 →
L614P Conflicting classifications of pathogeni 0.973 pathogenic 해석 →
L657F Pathogenic 0.952 pathogenic ✓ 해석 →
L658P Likely pathogenic 0.997 pathogenic ✓ 해석 →
L745P Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
L762F Conflicting classifications of pathogeni 0.862 pathogenic 해석 →
L917R Likely pathogenic 0.998 pathogenic ✓ 해석 →
M265K Likely pathogenic 0.998 pathogenic ✓ 해석 →
M611T Pathogenic/Likely pathogenic 0.917 pathogenic ✓ 해석 →
N259Y Likely pathogenic 0.926 pathogenic ✓ 해석 →
N537D Likely pathogenic 0.985 pathogenic ✓ 해석 →
P244R Likely pathogenic 1.000 pathogenic ✓ 해석 →
P613R Likely pathogenic 0.905 pathogenic ✓ 해석 →
P857A Conflicting classifications of pathogeni 0.557 ambiguous 해석 →
P857L Conflicting classifications of pathogeni 0.705 pathogenic 해석 →
P857R Pathogenic 0.886 pathogenic ✓ 해석 →
Q1625* Pathogenic — 미적재 해석 →
Q255* Likely pathogenic — 미적재 해석 →
R1001* Pathogenic — 미적재 해석 →
R102* Conflicting classifications of pathogeni — 미적재 해석 →
R1329C Likely pathogenic — 미적재 해석 →
R1332Q Conflicting classifications of pathogeni — 미적재 해석 →
R1332W Pathogenic — 미적재 해석 →
R1537C Conflicting classifications of pathogeni — 미적재 해석 →
R161* Pathogenic — 미적재 해석 →
R1666* Pathogenic — 미적재 해석 →
R1906* Conflicting classifications of pathogeni — 미적재 해석 →
R1962* Pathogenic — 미적재 해석 →
R246Q Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
R324Q Conflicting classifications of pathogeni 0.483 ambiguous 해석 →
R324W Conflicting classifications of pathogeni 0.754 pathogenic 해석 →
R518C Pathogenic 0.991 pathogenic ✓ 해석 →
R518H Pathogenic/Likely pathogenic 0.979 pathogenic ✓ 해석 →
R518S Likely pathogenic 0.998 pathogenic ✓ 해석 →
R858H Pathogenic/Likely pathogenic 0.726 pathogenic ✓ 해석 →
R860* Pathogenic — 미적재 해석 →
R860G Likely pathogenic 0.923 pathogenic ✓ 해석 →
R860P Conflicting classifications of pathogeni 0.866 pathogenic 해석 →
R860Q Conflicting classifications of pathogeni 0.695 pathogenic 해석 →
R890C Likely pathogenic 0.987 pathogenic ✓ 해석 →
R890H Conflicting classifications of pathogeni 0.975 pathogenic 해석 →
R998* Pathogenic — 미적재 해석 →
S405G Likely pathogenic 0.691 pathogenic ✓ 해석 →
S643F Likely pathogenic 0.983 pathogenic ✓ 해석 →
S710L Likely pathogenic 0.556 ambiguous 해석 →
T1168N Likely pathogenic — 미적재 해석 →
V1162M Conflicting classifications of pathogeni — 미적재 해석 →
V1167A Pathogenic/Likely pathogenic — 미적재 해석 →
V1190L Conflicting classifications of pathogeni — 미적재 해석 →
V1363L Likely pathogenic — 미적재 해석 →
V1363L Pathogenic — 미적재 해석 →
V1363M Likely pathogenic — 미적재 해석 →
V241A Likely pathogenic 0.987 pathogenic ✓ 해석 →
V257A Likely pathogenic 0.976 pathogenic ✓ 해석 →
V403M Likely pathogenic 0.895 pathogenic ✓ 해석 →
V618G Pathogenic 0.915 pathogenic ✓ 해석 →
V993L Likely pathogenic — 미적재 해석 →
W195R Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
W371* Likely pathogenic — 미적재 해석 →
W506* Likely pathogenic — 미적재 해석 →
Y1202* Pathogenic — 미적재 해석 →
Y1861* Pathogenic — 미적재 해석 →
A1008S Uncertain significance — 미적재 해석 →
A1008T Uncertain significance — 미적재 해석 →
A1025T Uncertain significance — 미적재 해석 →
A1067E Uncertain significance — 미적재 해석 →
A1067V Conflicting classifications of pathogeni — 미적재 해석 →
A1104G Uncertain significance — 미적재 해석 →
A1104V Uncertain significance — 미적재 해석 →
A1154S Uncertain significance — 미적재 해석 →
A1154T Uncertain significance — 미적재 해석 →
A1154V Uncertain significance — 미적재 해석 →
A1193T Uncertain significance — 미적재 해석 →
A1250S Uncertain significance — 미적재 해석 →
A1250T Uncertain significance — 미적재 해석 →
A1250V Uncertain significance — 미적재 해석 →
A1288S Uncertain significance — 미적재 해석 →
A1288T Conflicting classifications of pathogeni — 미적재 해석 →
A1317T Conflicting classifications of pathogeni — 미적재 해석 →
A1317V Uncertain significance — 미적재 해석 →
A1375T Uncertain significance — 미적재 해석 →
A1386S Uncertain significance — 미적재 해석 →
A1413T Uncertain significance — 미적재 해석 →
A1413V Uncertain significance — 미적재 해석 →
A142V Uncertain significance 0.940 pathogenic 해석 →
A1502V Uncertain significance — 미적재 해석 →
A1508T Uncertain significance — 미적재 해석 →
A154T Conflicting classifications of pathogeni 0.262 benign 해석 →
A1569T Uncertain significance — 미적재 해석 →
A1581G Uncertain significance — 미적재 해석 →
A1587E Uncertain significance 0.997 pathogenic 해석 →
A1587V Uncertain significance 0.981 pathogenic 해석 →
A1620T Uncertain significance — 미적재 해석 →
A1648P Uncertain significance — 미적재 해석 →
A1648T Conflicting classifications of pathogeni — 미적재 해석 →
A1648V Conflicting classifications of pathogeni — 미적재 해석 →
A1653V Uncertain significance — 미적재 해석 →
A1675T Conflicting classifications of pathogeni — 미적재 해석 →
A1682T Uncertain significance — 미적재 해석 →
A1689S Uncertain significance — 미적재 해석 →
A1689T Conflicting classifications of pathogeni — 미적재 해석 →
A1699T Uncertain significance — 미적재 해석 →
A1717D Uncertain significance — 미적재 해석 →
A1717G Conflicting classifications of pathogeni — 미적재 해석 →
A1717T Conflicting classifications of pathogeni — 미적재 해석 →
A1717V Conflicting classifications of pathogeni — 미적재 해석 →
A1733V Conflicting classifications of pathogeni — 미적재 해석 →
A174G Uncertain significance 0.831 pathogenic 해석 →
A174P Uncertain significance 0.999 pathogenic 해석 →
A174T Uncertain significance 0.863 pathogenic 해석 →
A174V Uncertain significance 0.958 pathogenic 해석 →
A1765D Uncertain significance 0.328 benign 해석 →
A1765T Likely benign 0.070 benign ✓ 해석 →
A1765V Uncertain significance 0.105 benign 해석 →
A1770T Uncertain significance — 미적재 해석 →
A1774S Uncertain significance — 미적재 해석 →
A1774T Likely benign — 미적재 해석 →
A1774V Likely benign — 미적재 해석 →
A1782P Uncertain significance — 미적재 해석 →
A1782T Likely benign — 미적재 해석 →
A1808G Likely benign — 미적재 해석 →
A1808V Conflicting classifications of pathogeni — 미적재 해석 →
A180G Uncertain significance 0.899 pathogenic 해석 →
A180T Uncertain significance 0.990 pathogenic 해석 →
A1823G Uncertain significance — 미적재 해석 →
A1824P Uncertain significance — 미적재 해석 →
A1826V Uncertain significance — 미적재 해석 →
A1847S Uncertain significance — 미적재 해석 →
A1891P Conflicting classifications of pathogeni — 미적재 해석 →
A1897P Uncertain significance — 미적재 해석 →
A1933G Uncertain significance — 미적재 해석 →
A1933S Uncertain significance — 미적재 해석 →
A1953V Uncertain significance — 미적재 해석 →
A1957D Uncertain significance — 미적재 해석 →
A1957P Uncertain significance — 미적재 해석 →
A1996V Conflicting classifications of pathogeni — 미적재 해석 →
A2007T Conflicting classifications of pathogeni — 미적재 해석 →
A2008P Uncertain significance — 미적재 해석 →
A2008T Conflicting classifications of pathogeni — 미적재 해석 →
A2022P Conflicting classifications of pathogeni — 미적재 해석 →
A2024V Uncertain significance — 미적재 해석 →
A2033T Uncertain significance — 미적재 해석 →
A2039G Conflicting classifications of pathogeni — 미적재 해석 →
A2039V Uncertain significance — 미적재 해석 →
A2066V Uncertain significance — 미적재 해석 →
A2086G Uncertain significance — 미적재 해석 →
A2086T Uncertain significance — 미적재 해석 →
A2093G Uncertain significance — 미적재 해석 →
A2103T Likely benign — 미적재 해석 →
A2103V Uncertain significance — 미적재 해석 →
A2108T Uncertain significance — 미적재 해석 →
A2108V Uncertain significance — 미적재 해석 →
A210V Uncertain significance 0.575 pathogenic 해석 →
A2114E Uncertain significance — 미적재 해석 →
A2114T Uncertain significance — 미적재 해석 →
A2114V Uncertain significance — 미적재 해석 →
A2119E Uncertain significance — 미적재 해석 →
A2119P Uncertain significance — 미적재 해석 →
A2119T Uncertain significance — 미적재 해석 →
A2119V Uncertain significance — 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.