A11S (p.Ala11Ser) variant of PKP1 (Plakophilin-1)
A11S (p.Ala11Ser) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- TOPMed rs986378706
- gnomAD rs986378706
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.37
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available