E4H (p.Glu4His) variant of CAV3 (Caveolin-3)
E4H (p.Glu4His) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E4H (p.Glu4His) variant details
- p.Glu4His
- rs778914298
- gnomAD 3-8733882-GGCAGAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 28.40
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available