Q29R (p.Gln29Arg) variant of LOX (Protein-lysine 6-oxidase)
Q29R (p.Gln29Arg) 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 0.10 / 1. The record also includes population frequency data and structural context.
Q29R (p.Gln29Arg) variant details
- p.Gln29Arg
- rs2532918340
- ClinGen CA2740094065
- ClinVar RCV003849405
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.04
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available