S59W (p.Ser59Trp) variant of PKP1 (Plakophilin-1)
S59W (p.Ser59Trp) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S59W (p.Ser59Trp) variant details
- p.Ser59Trp
- gnomAD 1-201283878-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.21
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available