G78S (p.Gly78Ser) variant of LOX (Protein-lysine 6-oxidase)
G78S (p.Gly78Ser) 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 0.16 / 1. The record also includes population frequency data and structural context.
G78S (p.Gly78Ser) variant details
- p.Gly78Ser
- TOPMed rs1442708152
- gnomAD rs1442708152
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.02
- CADD 9.78
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available