Q42R (p.Gln42Arg) variant of PKP1 (Plakophilin-1)
Q42R (p.Gln42Arg) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q42R (p.Gln42Arg) variant details
- p.Gln42Arg
- gnomAD 1-201283827-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.04
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available