S60S (p.Ser60Ser) variant of PKP1 (Plakophilin-1)
S60S (p.Ser60Ser) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S60S (p.Ser60Ser) variant details
- p.Ser60Ser
- gnomAD 1-201283882-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 15.30
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available