L13M (p.Leu13Met) variant of VCL (Vinculin)
L13M (p.Leu13Met) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 10-73998244-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.38
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available