V49V (p.Val49Val) variant of CAV3 (Caveolin-3)
V49V (p.Val49Val) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- rs777363173
- gnomAD 3-8745558-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 7.34
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available