A29T (p.Ala29Thr) variant of ALK (ALK tyrosine kinase receptor)
A29T (p.Ala29Thr) 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 Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs1326321652
- ClinGen CA346590721
- ClinVar RCV001220993
- ClinVar RCV004951349
- Conflicting interpretations
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0917
- REVEL 0.03
- MetaLR 0.16
- MetaSVM -1.00
- CADD 4.22
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Conflicting classifications of pathogenicity (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- 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)