S65S (p.Ser65Ser) variant of PKP1 (Plakophilin-1)
S65S (p.Ser65Ser) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S65S (p.Ser65Ser) variant details
- p.Ser65Ser
- rs754945554
- gnomAD 1-201283897-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available