E21I (p.Glu21Ile) variant of CAV3 (Caveolin-3)
E21I (p.Glu21Ile) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E21I (p.Glu21Ile) variant details
- p.Glu21Ile
- rs750675944
- gnomAD 3-8733896-C-CAGAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 21.60
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available