R56R (p.Arg56Arg) variant of VCL (Vinculin)
R56R (p.Arg56Arg) in VCL (Vinculin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R56R (p.Arg56Arg) variant details
- p.Arg56Arg
- gnomAD 10-73998375-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available