A3T (p.Ala3Thr) variant of ALK (ALK tyrosine kinase receptor)
A3T (p.Ala3Thr) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs1446332510
- ClinGen CA346590865
- ClinVar RCV000538902
- ClinVar RCV002420488
- Likely benign
- Missense
- MutPred 0.39
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)