G34G (p.Gly34Gly) variant of PKP1 (Plakophilin-1)
G34G (p.Gly34Gly) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G34G (p.Gly34Gly) variant details
- p.Gly34Gly
- rs1243979384
- gnomAD 1-201283804-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 18.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available