Q52H (p.Gln52His) variant of PKP1 (Plakophilin-1)
Q52H (p.Gln52His) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
Q52H (p.Gln52His) variant details
- p.Gln52His
- TOPMed rs1397427322
- gnomAD rs1397427322
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.03
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available