S54S (p.Ser54Ser) variant of PKP1 (Plakophilin-1)
S54S (p.Ser54Ser) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- gnomAD 1-201283864-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 15.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available