Q44H (p.Gln44His) variant of LOX (Protein-lysine 6-oxidase)
Q44H (p.Gln44His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q44H (p.Gln44His) variant details
- p.Gln44His
- rs934427837
- ClinGen CA125917590
- ClinVar RCV001280993
- TOPMed rs934427837
- Uncertain significance
- Aortic aneurysm, familial thoracic 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.04
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)