H134R (p.His134Arg) variant of PON1 (Serum paraoxonase/arylesterase 1)
H134R (p.His134Arg) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
H134R (p.His134Arg) variant details
- p.His134Arg
- 1000Genomes rs536888659
- ExAC rs536888659
- gnomAD rs536888659
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.74
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available