Q39P (p.Gln39Pro) variant of ALK (ALK tyrosine kinase receptor)
Q39P (p.Gln39Pro) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q39P (p.Gln39Pro) variant details
- p.Gln39Pro
- rs1667967646
- ClinGen CA346590667
- ClinVar RCV003028333
- ClinVar RCV005585298
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.16
- MetaLR 0.20
- MetaSVM -0.75
- CADD 23.30
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)