S15P (p.Ser15Pro) variant of ALK (ALK tyrosine kinase receptor)
S15P (p.Ser15Pro) 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. The record also includes published literature and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- rs1667971233
- ClinGen CA346590796
- ClinVar RCV003306611
- Ensembl rs1667971233
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)