G42S (p.Gly42Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G42S (p.Gly42Ser) 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 Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- rs121912433
- ClinGen CA257315
- ClinVar RCV000015876
- ClinVar RCV002496378
- Pathogenic
- Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclero
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.52
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.30
- ClinVar: Pathogenic (Spastic tetraplegia and axial hypotonia, progressive; Amyotrophi)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. (PMID 8351519)
- Cited in: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. (PMID 8446170)