N78S (p.Asn78Ser) variant of PON1 (Serum paraoxonase/arylesterase 1)
N78S (p.Asn78Ser) 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.
N78S (p.Asn78Ser) variant details
- p.Asn78Ser
- TOPMed rs1289956683
- gnomAD rs1289956683
- Missense
- Variant Prioritization Score for Impact Estimate 0.0922
- REVEL 0.04
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available