L25W (p.Leu25Trp) variant of PKP1 (Plakophilin-1)
L25W (p.Leu25Trp) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L25W (p.Leu25Trp) variant details
- p.Leu25Trp
- gnomAD rs1211069504
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.24
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available