S56C (p.Ser56Cys) variant of PKP1 (Plakophilin-1)
S56C (p.Ser56Cys) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S56C (p.Ser56Cys) variant details
- p.Ser56Cys
- ExAC rs776004636
- gnomAD rs776004636
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.33
- CADD 24.90
- PolyPhen-2 0.54
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available