G52V (p.Gly52Val) variant of LOX (Protein-lysine 6-oxidase)
G52V (p.Gly52Val) 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 0.52 / 1. The record also includes population frequency data and structural context.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- TOPMed rs1459190604
- gnomAD rs1459190604
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.38
- CADD 24.00
- PolyPhen-2 0.18
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available