E42K (p.Glu42Lys) variant of CAV3 (Caveolin-3)
E42K (p.Glu42Lys) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- cosmic curated COSV57478
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance
- Structural context available