W8R (p.Trp8Arg) variant of ALK (ALK tyrosine kinase receptor)
W8R (p.Trp8Arg) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
W8R (p.Trp8Arg) variant details
- p.Trp8Arg
- rs1222954765
- gnomAD rs1222954765
- ClinGen CA346590832
- ClinVar RCV000699226
- Uncertain significance
- Neuroblastoma, susceptibility to, 3; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.31
- MetaLR 0.37
- MetaSVM -0.74
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.00
- 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 1.5e-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)