H64L (p.His64Leu) variant of PKP1 (Plakophilin-1)
H64L (p.His64Leu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H64L (p.His64Leu) variant details
- p.His64Leu
- gnomAD 1-201283893-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.09
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available