E142Q (p.Glu142Gln) variant of PON1 (Serum paraoxonase/arylesterase 1)
E142Q (p.Glu142Gln) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E142Q (p.Glu142Gln) variant details
- p.Glu142Gln
- TOPMed rs1191875633
- gnomAD rs1191875633
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.37
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available