L9R (p.Leu9Arg) variant of ALK (ALK tyrosine kinase receptor)
L9R (p.Leu9Arg) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, published literature, and structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- rs764671855
- ClinGen CA346590821
- ClinVar RCV001348592
- ClinVar RCV002431982
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.59
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)