N113K (p.Asn113Lys) variant of PON1 (Serum paraoxonase/arylesterase 1)
N113K (p.Asn113Lys) in PON1 (Serum paraoxonase/arylesterase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N113K (p.Asn113Lys) variant details
- p.Asn113Lys
- rs748498563
- ClinGen CA4350331
- ClinVar RCV004356841
- ExAC rs748498563
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available