L62Q (p.Leu62Gln) variant of PON1 (Serum paraoxonase/arylesterase 1)
L62Q (p.Leu62Gln) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L62Q (p.Leu62Gln) variant details
- p.Leu62Gln
- gnomAD rs1200269102
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.56
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available