W48* (p.Trp48Ter) variant of SLC2A1 (P11166)
W48* (p.Trp48Ter) in SLC2A1 (P11166) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W48* (p.Trp48Ter) variant details
- p.Trp48Ter
- rs2524999660
- ClinGen CA339962484
- ClinVar RCV002648146
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available