G94D (p.Gly94Asp) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G94D (p.Gly94Asp) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G94D (p.Gly94Asp) variant details
- p.Gly94Asp
- rs121912438
- ClinGen CA410037459
- ClinVar RCV001384618
- UniProt VAR 007148
- Pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.91
- AlphaMissense 0.51
- MetaLR 0.99
- MetaSVM 0.96
- CADD 25.00
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization. (PMID 18301754)
- Cited in: Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients… (PMID 7951252)