P40L (p.Pro40Leu) variant of PON1 (Serum paraoxonase/arylesterase 1)
P40L (p.Pro40Leu) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- 1000Genomes rs141665531
- ESP rs141665531
- ExAC rs141665531
- TOPMed rs141665531
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.19
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the HGDP:MAKRANI population (allele frequency 0.045)
- Structural context available