I36V (p.Ile36Val) variant of CAV3 (Caveolin-3)
I36V (p.Ile36Val) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- ExAC rs750257861
- gnomAD rs750257861
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.25
- MetaSVM -0.56
- CADD 18.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available