R68P (p.Arg68Pro) variant of LOX (Protein-lysine 6-oxidase)
R68P (p.Arg68Pro) 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 not provided; Aortic aneurysm, familial thoracic 10; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R68P (p.Arg68Pro) variant details
- p.Arg68Pro
- rs994242735
- ClinGen CA125917517
- ClinVar RCV001803522
- ClinVar RCV002422863
- Uncertain significance
- not provided; Aortic aneurysm, familial thoracic 10; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.11
- CADD 26.50
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Aortic aneurysm, familial thoracic 10; Cardiovascu)
- 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)