S15Y (p.Ser15Tyr) variant of ALK (ALK tyrosine kinase receptor)
S15Y (p.Ser15Tyr) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S15Y (p.Ser15Tyr) variant details
- p.Ser15Tyr
- rs770134645
- ClinGen CA1595061
- ClinVar RCV000698820
- ClinVar RCV002332472
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- MetaLR 0.21
- MetaSVM -0.95
- CADD 11.20
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)