V44V (p.Val44Val) variant of CAV3 (Caveolin-3)
V44V (p.Val44Val) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V44V (p.Val44Val) variant details
- p.Val44Val
- rs372754279
- gnomAD 3-8745543-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 5.48
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available