V39V (p.Val39Val) variant of CAV3 (Caveolin-3)
V39V (p.Val39Val) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V39V (p.Val39Val) variant details
- p.Val39Val
- rs753959620
- gnomAD 3-8745528-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 16.10
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available