E56Q (p.Glu56Gln) variant of PON1 (Serum paraoxonase/arylesterase 1)
E56Q (p.Glu56Gln) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E56Q (p.Glu56Gln) variant details
- p.Glu56Gln
- Ensembl rs1807778080
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.13
- CADD 24.10
- PolyPhen-2 0.59
- SIFT 0.09
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available