Q53K (p.Gln53Lys) variant of LOX (Protein-lysine 6-oxidase)
Q53K (p.Gln53Lys) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q53K (p.Gln53Lys) variant details
- p.Gln53Lys
- TOPMed rs1397677729
- gnomAD rs1397677729
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.03
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available