S59S (p.Ser59Ser) variant of PKP1 (Plakophilin-1)
S59S (p.Ser59Ser) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S59S (p.Ser59Ser) variant details
- p.Ser59Ser
- gnomAD 1-201283879-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 14.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available