C7Y (p.Cys7Tyr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
C7Y (p.Cys7Tyr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 1. The record also includes variant effect predictions and structural context.
C7Y (p.Cys7Tyr) variant details
- p.Cys7Tyr
- gnomAD rs121912448
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available