E34W (p.Glu34Trp) variant of CAV3 (Caveolin-3)
E34W (p.Glu34Trp) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E34W (p.Glu34Trp) variant details
- p.Glu34Trp
- gnomAD 3-8733975-C-CTGGA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available