P26Q (p.Pro26Gln) variant of PKP1 (Plakophilin-1)
P26Q (p.Pro26Gln) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- ESP rs377481646
- ExAC rs377481646
- TOPMed rs377481646
- gnomAD rs377481646
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.38
- CADD 28.40
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available