V54M (p.Val54Met) variant of LOX (Protein-lysine 6-oxidase)
V54M (p.Val54Met) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V54M (p.Val54Met) variant details
- p.Val54Met
- rs1403412780
- ClinGen CA360877869
- ClinVar RCV002761370
- ClinVar RCV004067950
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.13
- CADD 25.40
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available