T16P (p.Thr16Pro) variant of ALK (ALK tyrosine kinase receptor)
T16P (p.Thr16Pro) 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 Neuroblastoma, susceptibility to, 3. The record also includes variant effect predictions, published literature, and structural context.
T16P (p.Thr16Pro) variant details
- p.Thr16Pro
- rs1572504096
- ClinGen CA346590793
- ClinVar RCV000793601
- Ensembl rs1572504096
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- MutPred 0.23
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)