D19G (p.Asp19Gly) variant of PKP1 (Plakophilin-1)
D19G (p.Asp19Gly) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D19G (p.Asp19Gly) variant details
- p.Asp19Gly
- gnomAD rs1339972669
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.09
- CADD 23.70
- PolyPhen-2 0.12
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available