Q28* (p.Gln28Ter) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q28* (p.Gln28Ter) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- rs2034029835
- ClinGen CA391686362
- ClinVar RCV001289847
- Ensembl rs2034029835
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical Practice Guideline for the Management of Infantile Hemangiomas. (PMID 30584062)