D28E (p.Asp28Glu) variant of PKP1 (Plakophilin-1)
D28E (p.Asp28Glu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D28E (p.Asp28Glu) variant details
- p.Asp28Glu
- 1000Genomes rs751815067
- ExAC rs751815067
- gnomAD rs751815067
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.22
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available