S36S (p.Ser36Ser) variant of PKP1 (Plakophilin-1)
S36S (p.Ser36Ser) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S36S (p.Ser36Ser) variant details
- p.Ser36Ser
- gnomAD 1-201283810-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 14.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available