Q52Q (p.Gln52Gln) variant of PKP1 (Plakophilin-1)
Q52Q (p.Gln52Gln) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q52Q (p.Gln52Gln) variant details
- p.Gln52Gln
- gnomAD 1-201283858-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available