R43S (p.Arg43Ser) variant of LOX (Protein-lysine 6-oxidase)
R43S (p.Arg43Ser) 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 Cardiovascular phenotype. 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.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- ExAC rs766020979
- gnomAD rs766020979
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available