F46S (p.Phe46Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
F46S (p.Phe46Ser) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ALS1. The record also includes variant effect predictions and structural context.
F46S (p.Phe46Ser) variant details
- p.Phe46Ser
- Ensembl rs121912457
- Pathogenic
- in ALS1
- Missense
- MetaLR 0.99
- MetaSVM 1.03
- SIFT 0.02
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available