N78K (p.Asn78Lys) variant of PON1 (Serum paraoxonase/arylesterase 1)
N78K (p.Asn78Lys) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
N78K (p.Asn78Lys) variant details
- p.Asn78Lys
- gnomAD rs1208670437
- Missense
- Variant Prioritization Score for Impact Estimate 0.0398
- REVEL 0.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available