I48M (p.Ile48Met) variant of PON1 (Serum paraoxonase/arylesterase 1)
I48M (p.Ile48Met) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I48M (p.Ile48Met) variant details
- p.Ile48Met
- ESP rs373190914
- ExAC rs373190914
- TOPMed rs373190914
- gnomAD rs373190914
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.15
- CADD 18.10
- PolyPhen-2 0.65
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available