D19N (p.Asp19Asn) variant of PKP1 (Plakophilin-1)
D19N (p.Asp19Asn) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- gnomAD rs1271921485
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.43
- SIFT 0.54
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available