G73S (p.Gly73Ser) variant of LOX (Protein-lysine 6-oxidase)
G73S (p.Gly73Ser) 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. 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.
G73S (p.Gly73Ser) variant details
- p.Gly73Ser
- rs1414622659
- ClinGen CA360877515
- ClinVar RCV002014606
- gnomAD rs1414622659
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.02
- CADD 9.20
- PolyPhen-2 0.01
- SIFT 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available