G2A (p.Gly2Ala) variant of ALK (ALK tyrosine kinase receptor)
G2A (p.Gly2Ala) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- rs1459946897
- ClinGen CA346590867
- ClinVar RCV003468360
- TOPMed rs1459946897
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.02
- MetaLR 0.39
- MetaSVM -0.75
- CADD 18.00
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)