Q86K (p.Gln86Lys) variant of LOX (Protein-lysine 6-oxidase)
Q86K (p.Gln86Lys) 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 0.32 / 1. The record also includes population frequency data and structural context.
Q86K (p.Gln86Lys) variant details
- p.Gln86Lys
- rs1283957294
- ClinGen CA360877273
- ClinVar RCV002452750
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.07
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.58
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available