Q18R (p.Gln18Arg) variant of PKP1 (Plakophilin-1)
Q18R (p.Gln18Arg) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- gnomAD 1-201283755-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.16
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available