G94R (p.Gly94Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G94R (p.Gly94Arg) 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 Motor neuron disease; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
G94R (p.Gly94Arg) variant details
- p.Gly94Arg
- rs121912437
- ClinGen CA257367
- ClinVar RCV000015907
- ClinVar RCV000492720
- Pathogenic
- Motor neuron disease; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.55
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.36
- ClinVar: Pathogenic (Motor neuron disease; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of… (PMID 18552350)
- Cited in: A novel SOD mutant and ALS. (PMID 7700376)