Q58H (p.Gln58His) variant of PKP1 (Plakophilin-1)
Q58H (p.Gln58His) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q58H (p.Gln58His) variant details
- p.Gln58His
- 1000Genomes rs560818766
- ExAC rs560818766
- gnomAD rs560818766
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available