G34D (p.Gly34Asp) variant of PKP1 (Plakophilin-1)
G34D (p.Gly34Asp) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- ExAC rs749292645
- gnomAD rs749292645
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.05
- CADD 24.10
- PolyPhen-2 0.47
- SIFT 0.32
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available