S31C (p.Ser31Cys) variant of ALK (ALK tyrosine kinase receptor)
S31C (p.Ser31Cys) 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 variant effect predictions, published literature, and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- rs2148443930
- ClinGen CA346590706
- ClinVar RCV002371521
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.22
- 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)