I48V (p.Ile48Val) variant of PON1 (Serum paraoxonase/arylesterase 1)
I48V (p.Ile48Val) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- ESP rs144612002
- ExAC rs144612002
- TOPMed rs144612002
- gnomAD rs144612002
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.10
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available