Q45H (p.Gln45His) variant of LOX (Protein-lysine 6-oxidase)
Q45H (p.Gln45His) 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 Cardiovascular phenotype; Familial thoracic aortic aneurysm and aortic dissectio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q45H (p.Gln45His) variant details
- p.Gln45His
- rs577482351
- ClinGen CA3384114
- ClinVar RCV000998420
- ClinVar RCV002382234
- Conflicting interpretations
- Cardiovascular phenotype; Familial thoracic aortic aneurysm and aortic dissectio
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.01
- CADD 18.60
- PolyPhen-2 0.09
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial thoracic aortic aneurysm and)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)