Q16E (p.Gln16Glu) variant of PKP1 (Plakophilin-1)
Q16E (p.Gln16Glu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q16E (p.Gln16Glu) variant details
- p.Gln16Glu
- TOPMed rs1655642159
- gnomAD rs1655642159
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.05
- CADD 18.90
- PolyPhen-2 0.15
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available