M1T (p.Met1Thr) variant of ALK (ALK tyrosine kinase receptor)
M1T (p.Met1Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2148444203
- ClinGen CA346590877
- ClinVar RCV003518482
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- MutPred 0.94
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)