R32* (p.Arg32Ter) variant of PON1 (Serum paraoxonase/arylesterase 1)
R32* (p.Arg32Ter) in PON1 (Serum paraoxonase/arylesterase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R32* (p.Arg32Ter) variant details
- p.Arg32Ter
- 1000Genomes rs199851417
- ExAC rs199851417
- TOPMed rs199851417
- gnomAD rs199851417
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 38.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available