H64R (p.His64Arg) variant of PKP1 (Plakophilin-1)
H64R (p.His64Arg) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H64R (p.His64Arg) variant details
- p.His64Arg
- gnomAD rs1310097346
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.56
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available