R38R (p.Arg38Arg) variant of PKP1 (Plakophilin-1)
R38R (p.Arg38Arg) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R38R (p.Arg38Arg) variant details
- p.Arg38Arg
- gnomAD 1-201283816-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 13.60
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available