Q58R (p.Gln58Arg) variant of PKP1 (Plakophilin-1)
Q58R (p.Gln58Arg) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q58R (p.Gln58Arg) variant details
- p.Gln58Arg
- gnomAD 1-201283875-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.62
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available