R88C (p.Arg88Cys) variant of LOX (Protein-lysine 6-oxidase)
R88C (p.Arg88Cys) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R88C (p.Arg88Cys) variant details
- p.Arg88Cys
- cosmic curated COSV50240
- TOPMed rs997637411
- gnomAD rs997637411
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.12
- CADD 29.00
- PolyPhen-2 0.56
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.9e-05)
- Structural context available