L39F (p.Leu39Phe) variant of PON1 (Serum paraoxonase/arylesterase 1)
L39F (p.Leu39Phe) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L39F (p.Leu39Phe) variant details
- p.Leu39Phe
- TOPMed rs1172851702
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.17
- CADD 23.90
- PolyPhen-2 0.81
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available