A17T (p.Ala17Thr) variant of ALK (ALK tyrosine kinase receptor)
A17T (p.Ala17Thr) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs369196372
- ClinGen CA1595057
- ClinVar RCV000698821
- ClinVar RCV005338321
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- MetaLR 0.23
- MetaSVM -0.96
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)