Q16* (p.Gln16Ter) variant of PKP1 (Plakophilin-1)
Q16* (p.Gln16Ter) in PKP1 (Plakophilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Q16* (p.Gln16Ter) variant details
- p.Gln16Ter
- TOPMed rs1655642159
- gnomAD rs1655642159
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available