R2S (p.Arg2Ser) variant of LOX (Protein-lysine 6-oxidase)
R2S (p.Arg2Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- ExAC rs746103919
- TOPMed rs746103919
- gnomAD rs746103919
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.07
- CADD 24.80
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available