R67R (p.Arg67Arg) variant of PKP1 (Plakophilin-1)
R67R (p.Arg67Arg) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R67R (p.Arg67Arg) variant details
- p.Arg67Arg
- rs778655336
- gnomAD 1-201283901-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 16.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available