L130P (p.Leu130Pro) variant of PON1 (Serum paraoxonase/arylesterase 1)
L130P (p.Leu130Pro) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L130P (p.Leu130Pro) variant details
- p.Leu130Pro
- TOPMed rs1807655597
- gnomAD rs1807655597
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.50
- CADD 26.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available