A33S (p.Ala33Ser) variant of ALK (ALK tyrosine kinase receptor)
A33S (p.Ala33Ser) 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 Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- rs1384517795
- ClinGen CA346590701
- ClinVar RCV003053263
- ClinVar RCV004070326
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.03
- MetaLR 0.27
- MetaSVM -0.89
- CADD 19.20
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)