P5P (p.Pro5Pro) variant of PKP1 (Plakophilin-1)
P5P (p.Pro5Pro) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- rs760122260
- gnomAD 1-201283717-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 14.90
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available