M298R (p.Met298Arg) variant of LOX (Protein-lysine 6-oxidase)
M298R (p.Met298Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Aortic aneurysm, familial thoracic 10; Familial thoracic aortic aneurysm and aor. The record also includes population frequency data, published literature, and structural context.
M298R (p.Met298Arg) variant details
- p.Met298Arg
- rs876657852
- ClinGen CA10576645
- ClinVar RCV000213633
- ClinVar RCV000258026
- Pathogenic/Likely pathogenic
- Aortic aneurysm, familial thoracic 10; Familial thoracic aortic aneurysm and aor
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Aortic aneurysm, familial thoracic 10; Familial thoracic aortic)
- EBI: Pathogenic (in AAT10)
- UniProt: Pathogenic (in AAT10)
- Population evidence available
- Structural context available
- Cited in: Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. (PMID 27432961)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)