G52R (p.Gly52Arg) variant of LOX (Protein-lysine 6-oxidase)
G52R (p.Gly52Arg) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- rs774886810
- ClinGen CA3384110
- ClinVar RCV003328058
- ClinVar RCV004784141
- Uncertain significance
- Aortic aneurysm, familial thoracic 10; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.44
- CADD 27.50
- PolyPhen-2 0.92
- 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)