E22G (p.Glu22Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E22G (p.Glu22Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- rs1568807435
- UniProt VAR 013523
- Ensembl rs1568807435
- Pathogenic
- in ALS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.44
- MetaLR 0.98
- MetaSVM 1.11
- PolyPhen-2 0.02
- SIFT 0.03
- EVE 0.35
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. (PMID 9706719)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)