C42R (p.Cys42Arg) variant of PON1 (Serum paraoxonase/arylesterase 1)
C42R (p.Cys42Arg) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- ESP rs138512790
- ExAC rs138512790
- TOPMed rs138512790
- gnomAD rs138512790
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.69
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Structural context available