G78C (p.Gly78Cys) variant of LOX (Protein-lysine 6-oxidase)
G78C (p.Gly78Cys) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G78C (p.Gly78Cys) variant details
- p.Gly78Cys
- TOPMed rs1442708152
- gnomAD rs1442708152
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.03
- CADD 17.60
- PolyPhen-2 0.17
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available