V49L (p.Val49Leu) variant of CAV3 (Caveolin-3)
V49L (p.Val49Leu) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- Ensembl rs748266940
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available