L129F (p.Leu129Phe) variant of PON1 (Serum paraoxonase/arylesterase 1)
L129F (p.Leu129Phe) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L129F (p.Leu129Phe) variant details
- p.Leu129Phe
- TOPMed rs1807655703
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.45
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available