R18G (p.Arg18Gly) variant of PON1 (Serum paraoxonase/arylesterase 1)
R18G (p.Arg18Gly) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- rs201783178
- ClinGen CA4350440
- ClinVar RCV004122454
- 1000Genomes rs201783178
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.08
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available