L143V (p.Leu143Val) variant of PON1 (Serum paraoxonase/arylesterase 1)
L143V (p.Leu143Val) 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 0.04 / 1. The record also includes population frequency data and structural context.
L143V (p.Leu143Val) variant details
- p.Leu143Val
- rs760914005
- ExAC rs760914005
- TOPMed rs760914005
- gnomAD rs760914005
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0411
- REVEL 0.03
- CADD 0.24
- PolyPhen-2 0.00
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available