Q27E (p.Gln27Glu) variant of ALK (ALK tyrosine kinase receptor)
Q27E (p.Gln27Glu) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q27E (p.Gln27Glu) variant details
- p.Gln27Glu
- rs1469224885
- ClinGen CA346590732
- ClinVar RCV000810935
- ClinVar RCV002422785
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.06
- MetaLR 0.23
- MetaSVM -0.93
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)