A49V (p.Ala49Val) variant of VCL (Vinculin)
A49V (p.Ala49Val) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD rs1290715724
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.24
- AlphaMissense 0.29
- MetaLR 0.20
- MetaSVM -0.74
- CADD 29.00
- PolyPhen-2 1.00
- Population evidence available
- Structural context available