G26D (p.Gly26Asp) variant of ALK (ALK tyrosine kinase receptor)
G26D (p.Gly26Asp) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- rs755942639
- ClinGen CA1595052
- ClinVar RCV001932456
- ClinVar RCV004946788
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.02
- MetaLR 0.19
- MetaSVM -0.97
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.10
- 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)