W117C (p.Trp117Cys) variant of SLC2A2 (P11168)
W117C (p.Trp117Cys) in SLC2A2 (P11168) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W117C (p.Trp117Cys) variant details
- p.Trp117Cys
- Ensembl rs753980727
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available