A29S (p.Ala29Ser) variant of ALK (ALK tyrosine kinase receptor)
A29S (p.Ala29Ser) 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.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- rs1326321652
- ClinGen CA346590719
- ClinVar RCV002029323
- ClinVar RCV005350878
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- MutPred 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Likely benign
- UniProt: Likely benign
- 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)