Q39E (p.Gln39Glu) variant of PKP1 (Plakophilin-1)
Q39E (p.Gln39Glu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q39E (p.Gln39Glu) variant details
- p.Gln39Glu
- ExAC rs747869491
- TOPMed rs747869491
- gnomAD rs747869491
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.12
- CADD 25.50
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available