D19E (p.Asp19Glu) variant of PKP1 (Plakophilin-1)
D19E (p.Asp19Glu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D19E (p.Asp19Glu) variant details
- p.Asp19Glu
- gnomAD 1-201283759-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.02
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available