P26R (p.Pro26Arg) variant of PKP1 (Plakophilin-1)
P26R (p.Pro26Arg) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- gnomAD 1-201283779-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.45
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available