G24A (p.Gly24Ala) variant of ALK (ALK tyrosine kinase receptor)
G24A (p.Gly24Ala) 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 Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3. The record also includes variant effect predictions, published literature, and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- rs2148443981
- ClinGen CA346590744
- ClinVar RCV004516691
- ClinVar RCV005100471
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- MutPred 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- 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)