G24E (p.Gly24Glu) variant of ALK (ALK tyrosine kinase receptor)
G24E (p.Gly24Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- rs2148443981
- ClinGen CA346590745
- ClinVar RCV002295171
- Ensembl rs2148443981
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.03
- MetaLR 0.25
- MetaSVM -0.93
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)