A50V (p.Ala50Val) variant of VCL (Vinculin)
A50V (p.Ala50Val) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- gnomAD 10-73998356-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.61
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available