R2C (p.Arg2Cys) variant of LOX (Protein-lysine 6-oxidase)
R2C (p.Arg2Cys) 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 0.32 / 1. The record also includes population frequency data and structural context.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- rs746103919
- ClinGen CA3384151
- ClinVar RCV002657921
- ExAC rs746103919
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.08
- CADD 26.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available