R88S (p.Arg88Ser) variant of LOX (Protein-lysine 6-oxidase)
R88S (p.Arg88Ser) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R88S (p.Arg88Ser) variant details
- p.Arg88Ser
- rs997637411
- ClinGen CA125917435
- ClinVar RCV003120319
- ClinVar RCV004636706
- Uncertain significance
- Aortic aneurysm, familial thoracic 10; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.15
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 10; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)