Q147* (p.Gln147Ter) variant of PON1 (Serum paraoxonase/arylesterase 1)
Q147* (p.Gln147Ter) in PON1 (Serum paraoxonase/arylesterase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q147* (p.Gln147Ter) variant details
- p.Gln147Ter
- TOPMed rs1396950606
- gnomAD rs1396950606
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available