L13R (p.Leu13Arg) variant of VCL (Vinculin)
L13R (p.Leu13Arg) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD 10-73998245-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available