G11A (p.Gly11Ala) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G11A (p.Gly11Ala) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of SOD1-related disorder. The record also includes structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- Ensembl rs1555836167
- Pathogenic
- SOD1-related disorder
- Missense
- ClinVar: Pathogenic (SOD1-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available