R70Q (p.Arg70Gln) variant of LOX (Protein-lysine 6-oxidase)
R70Q (p.Arg70Gln) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R70Q (p.Arg70Gln) variant details
- p.Arg70Gln
- rs1288155606
- ClinGen CA360877540
- ClinVar RCV002424176
- TOPMed rs1288155606
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.13
- CADD 24.60
- PolyPhen-2 0.89
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available