P5R (p.Pro5Arg) variant of PKP1 (Plakophilin-1)
P5R (p.Pro5Arg) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- gnomAD 1-201283716-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.25
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available