D28G (p.Asp28Gly) variant of PKP1 (Plakophilin-1)
D28G (p.Asp28Gly) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D28G (p.Asp28Gly) variant details
- p.Asp28Gly
- gnomAD 1-201283785-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available