N81K (p.Asn81Lys) variant of LOX (Protein-lysine 6-oxidase)
N81K (p.Asn81Lys) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N81K (p.Asn81Lys) variant details
- p.Asn81Lys
- TOPMed rs891932826
- gnomAD rs891932826
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.03
- CADD 8.79
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available