L13V (p.Leu13Val) variant of VCL (Vinculin)
L13V (p.Leu13Val) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- gnomAD 10-73998244-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.35
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available