Q16Q (p.Gln16Gln) variant of PKP1 (Plakophilin-1)
Q16Q (p.Gln16Gln) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q16Q (p.Gln16Gln) variant details
- p.Gln16Gln
- rs1293694803
- gnomAD 1-201283750-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available