Q45R (p.Gln45Arg) variant of LOX (Protein-lysine 6-oxidase)
Q45R (p.Gln45Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- rs1754688465
- ClinGen CA360878132
- ClinVar RCV002572807
- Ensembl rs1754688465
- Conflicting interpretations
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.03
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available