S27S (p.Ser27Ser) variant of PKP1 (Plakophilin-1)
S27S (p.Ser27Ser) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- gnomAD 1-201283783-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.34
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available