R32Q (p.Arg32Gln) variant of PON1 (Serum paraoxonase/arylesterase 1)
R32Q (p.Arg32Gln) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- TOPMed rs913577189
- gnomAD rs913577189
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.20
- CADD 19.30
- PolyPhen-2 0.32
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available