E42* (p.Glu42Ter) variant of SLC2A1 (P11166)
E42* (p.Glu42Ter) in SLC2A1 (P11166) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- rs2124450939
- ClinGen CA339962638
- ClinVar RCV001949288
- Ensembl rs2124450939
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available