S55R (p.Ser55Arg) variant of SLC2A1 (P11166)
S55R (p.Ser55Arg) in SLC2A1 (P11166) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S55R (p.Ser55Arg) variant details
- p.Ser55Arg
- rs2524999574
- ClinGen CA2580611169
- ClinVar RCV002852534
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available