G78D (p.Gly78Asp) variant of LOX (Protein-lysine 6-oxidase)
G78D (p.Gly78Asp) 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 0.12 / 1. The record also includes population frequency data and structural context.
G78D (p.Gly78Asp) variant details
- p.Gly78Asp
- ExAC rs774406736
- TOPMed rs774406736
- gnomAD rs774406736
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.02
- CADD 5.48
- PolyPhen-2 0.03
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available