T25I (p.Thr25Ile) variant of ALK (ALK tyrosine kinase receptor)
T25I (p.Thr25Ile) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- rs753812499
- ClinGen CA1595054
- ClinVar RCV001220623
- ClinVar RCV006406861
- Conflicting interpretations
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.01
- MetaLR 0.21
- MetaSVM -0.97
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)