I48N (p.Ile48Asn) variant of PON1 (Serum paraoxonase/arylesterase 1)
I48N (p.Ile48Asn) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I48N (p.Ile48Asn) variant details
- p.Ile48Asn
- TOPMed rs1807816730
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.27
- CADD 29.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available