N50I (p.Asn50Ile) variant of LOX (Protein-lysine 6-oxidase)
N50I (p.Asn50Ile) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N50I (p.Asn50Ile) variant details
- p.Asn50Ile
- rs2532918055
- ClinGen CA360877959
- ClinVar RCV004513487
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.14
- CADD 27.40
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available