A33G (p.Ala33Gly) variant of ALK (ALK tyrosine kinase receptor)
A33G (p.Ala33Gly) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A33G (p.Ala33Gly) variant details
- p.Ala33Gly
- rs1037134870
- ClinGen CA45004785
- ClinVar RCV001234580
- TOPMed rs1037134870
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.08
- MetaLR 0.28
- MetaSVM -0.86
- CADD 22.40
- PolyPhen-2 0.08
- SIFT 0.14
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)