G73S (p.Gly73Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G73S (p.Gly73Ser) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G73S (p.Gly73Ser) variant details
- p.Gly73Ser
- rs121912455
- ClinGen CA257358
- cosmic curated COSV10879
- ClinVar RCV000015902
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.93
- MetaLR 1.00
- MetaSVM 0.94
- CADD 28.90
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). (PMID 9455977)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)