Q39H (p.Gln39His) variant of ALK (ALK tyrosine kinase receptor)
Q39H (p.Gln39His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q39H (p.Gln39His) variant details
- p.Gln39His
- rs1225169683
- ClinGen CA346590663
- ClinVar RCV002298120
- TOPMed rs1225169683
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.12
- MetaLR 0.30
- MetaSVM -0.47
- CADD 23.80
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)