I46N (p.Ile46Asn) variant of LOX (Protein-lysine 6-oxidase)
I46N (p.Ile46Asn) 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 Aortic aneurysm, familial thoracic 10; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I46N (p.Ile46Asn) variant details
- p.Ile46Asn
- rs1230077744
- ClinGen CA360878100
- ClinVar RCV002227006
- ClinVar RCV003089217
- Uncertain significance
- Aortic aneurysm, familial thoracic 10; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.14
- CADD 28.30
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 10; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)