G17S (p.Gly17Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G17S (p.Gly17Ser) 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 Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- rs121912453
- ClinGen CA257353
- ClinVar RCV000015899
- UniProt VAR 007134
- Pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral… (PMID 9101297)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)