Q63H (p.Gln63His) variant of LOX (Protein-lysine 6-oxidase)
Q63H (p.Gln63His) 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 0.21 / 1. The record also includes population frequency data and structural context.
Q63H (p.Gln63His) variant details
- p.Gln63His
- rs1754686581
- ClinGen CA360877656
- ClinVar RCV003187661
- Ensembl rs1754686581
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.05
- CADD 22.30
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available