G11R (p.Gly11Arg) variant of LOX (Protein-lysine 6-oxidase)
G11R (p.Gly11Arg) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aortic aneurysm, familial thoracic 10; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs370627614
- ESP rs370627614
- ExAC rs370627614
- TOPMed rs370627614
- Conflicting interpretations
- Aortic aneurysm, familial thoracic 10; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Aortic aneurysm, familial thoracic 10; not provided; Cardiovascu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)