G68D (p.Gly68Asp) variant of PKP1 (Plakophilin-1)
G68D (p.Gly68Asp) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- cosmic curated COSV10584
- TOPMed rs1407567667
- gnomAD rs1407567667
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.23
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available