A3V (p.Ala3Val) variant of CAV3 (Caveolin-3)
A3V (p.Ala3Val) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 3-8733884-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.84
- MetaSVM 0.30
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available