V14V (p.Val14Val) variant of CAV3 (Caveolin-3)
V14V (p.Val14Val) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V14V (p.Val14Val) variant details
- p.Val14Val
- gnomAD 3-8733918-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available