R51R (p.Arg51Arg) variant of PKP1 (Plakophilin-1)
R51R (p.Arg51Arg) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R51R (p.Arg51Arg) variant details
- p.Arg51Arg
- rs181972441
- gnomAD 1-201283853-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 14.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available