A11A (p.Ala11Ala) variant of CAV3 (Caveolin-3)
A11A (p.Ala11Ala) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- rs369206230
- gnomAD 3-8733909-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available