G2E (p.Gly2Glu) variant of ALK (ALK tyrosine kinase receptor)
G2E (p.Gly2Glu) 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 0.18 / 1. The record also includes population frequency data and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- TOPMed rs1459946897
- gnomAD rs1459946897
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.03
- MetaLR 0.44
- MetaSVM -0.71
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available