D17N (p.Asp17Asn) variant of PKP1 (Plakophilin-1)
D17N (p.Asp17Asn) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- gnomAD rs1339584228
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.54
- SIFT 0.51
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available