G52W (p.Gly52Trp) variant of LOX (Protein-lysine 6-oxidase)
G52W (p.Gly52Trp) 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 not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G52W (p.Gly52Trp) variant details
- p.Gly52Trp
- rs774886810
- ClinGen CA125917564
- ClinVar RCV002403351
- ClinVar RCV005097586
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.30
- CADD 24.70
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available