E38G (p.Glu38Gly) variant of PON1 (Serum paraoxonase/arylesterase 1)
E38G (p.Glu38Gly) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- ExAC rs762087638
- gnomAD rs762087638
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.13
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available