H64Y (p.His64Tyr) variant of PKP1 (Plakophilin-1)
H64Y (p.His64Tyr) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H64Y (p.His64Tyr) variant details
- p.His64Tyr
- 1000Genomes rs529709320
- ExAC rs529709320
- TOPMed rs529709320
- gnomAD rs529709320
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.04
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available