P79H (p.Pro79His) variant of PON1 (Serum paraoxonase/arylesterase 1)
P79H (p.Pro79His) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P79H (p.Pro79His) variant details
- p.Pro79His
- rs371338407
- ESP rs371338407
- ExAC rs371338407
- TOPMed rs371338407
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.19
- CADD 19.90
- PolyPhen-2 0.05
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available