G38R (p.Gly38Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G38R (p.Gly38Arg) 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 0.90 / 1. The record also includes published literature and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- rs121912431
- ClinGen CA410036643
- ClinVar RCV000664220
- Ensembl rs121912431
- Pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.86
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)
- Cited in: Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity. (PMID 12145308)