W8C (p.Trp8Cys) variant of ALK (ALK tyrosine kinase receptor)
W8C (p.Trp8Cys) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
W8C (p.Trp8Cys) variant details
- p.Trp8Cys
- rs749905243
- ExAC rs749905243
- gnomAD rs749905243
- ClinGen CA1595074
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.17
- MetaLR 0.41
- MetaSVM -0.26
- CADD 24.10
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)