N80S (p.Asn80Ser) variant of PON1 (Serum paraoxonase/arylesterase 1)
N80S (p.Asn80Ser) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N80S (p.Asn80Ser) variant details
- p.Asn80Ser
- ExAC rs781527817
- TOPMed rs781527817
- gnomAD rs781527817
- Missense
- Variant Prioritization Score for Impact Estimate 0.0918
- REVEL 0.06
- CADD 7.85
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available