R43H (p.Arg43His) variant of LOX (Protein-lysine 6-oxidase)
R43H (p.Arg43His) 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 0.44 / 1. The record also includes population frequency data and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs1261175120
- ClinGen CA360878192
- ClinVar RCV003360623
- TOPMed rs1261175120
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.20
- CADD 27.40
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available