R27Q (p.Arg27Gln) variant of PON1 (Serum paraoxonase/arylesterase 1)
R27Q (p.Arg27Gln) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- 1000Genomes rs551653548
- ExAC rs551653548
- TOPMed rs551653548
- gnomAD rs551653548
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.28
- CADD 24.40
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available