L24V (p.Leu24Val) variant of CAV3 (Caveolin-3)
L24V (p.Leu24Val) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- gnomAD 3-8733946-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.51
- MetaLR 0.72
- MetaSVM 0.28
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available