T16A (p.Thr16Ala) variant of ALK (ALK tyrosine kinase receptor)
T16A (p.Thr16Ala) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- rs1572504096
- ClinGen CA346590792
- ClinVar RCV001225351
- ClinVar RCV002339607
- Conflicting interpretations
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.01
- MetaLR 0.11
- MetaSVM -1.02
- CADD 3.40
- PolyPhen-2 0.00
- SIFT 0.85
- 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)