R43L (p.Arg43Leu) variant of LOX (Protein-lysine 6-oxidase)
R43L (p.Arg43Leu) 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 0.37 / 1. The record also includes population frequency data and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- rs1261175120
- ClinGen CA360878186
- ClinVar RCV002223709
- TOPMed rs1261175120
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.13
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available