S56R (p.Ser56Arg) variant of LOX (Protein-lysine 6-oxidase)
S56R (p.Ser56Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- rs1036096526
- ClinGen CA360877796
- ClinVar RCV003313480
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available