S4W (p.Ser4Trp) variant of PKP1 (Plakophilin-1)
S4W (p.Ser4Trp) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S4W (p.Ser4Trp) variant details
- p.Ser4Trp
- TOPMed rs1475958808
- gnomAD rs1475958808
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.20
- CADD 31.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available