T16M (p.Thr16Met) variant of ALK (ALK tyrosine kinase receptor)
T16M (p.Thr16Met) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T16M (p.Thr16Met) variant details
- p.Thr16Met
- rs542229113
- ClinGen CA1595059
- ClinVar RCV003876874
- ClinVar RCV004950754
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.01
- MetaLR 0.15
- MetaSVM -0.98
- CADD 11.00
- PolyPhen-2 0.06
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- 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)