A126V (p.Ala126Val) variant of PON1 (Serum paraoxonase/arylesterase 1)
A126V (p.Ala126Val) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A126V (p.Ala126Val) variant details
- p.Ala126Val
- ExAC rs751404534
- TOPMed rs751404534
- gnomAD rs751404534
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.09
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available