Q27R (p.Gln27Arg) variant of ALK (ALK tyrosine kinase receptor)
Q27R (p.Gln27Arg) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs752501243
- ClinGen CA1595051
- ClinVar RCV001035163
- ClinVar RCV005582494
- Conflicting interpretations
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.99
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Neuroblastoma, susceptibility to, 3; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-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)