Q42Q (p.Gln42Gln) variant of PKP1 (Plakophilin-1)
Q42Q (p.Gln42Gln) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q42Q (p.Gln42Gln) variant details
- p.Gln42Gln
- gnomAD 1-201283828-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available