R70W (p.Arg70Trp) variant of LOX (Protein-lysine 6-oxidase)
R70W (p.Arg70Trp) 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 0.29 / 1. The record also includes population frequency data and structural context.
R70W (p.Arg70Trp) variant details
- p.Arg70Trp
- rs1225418866
- ClinGen CA360877545
- ClinVar RCV002024459
- gnomAD rs1225418866
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.12
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available