G42D (p.Gly42Asp) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G42D (p.Gly42Asp) 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 0.89 / 1. The record also includes published literature and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- rs121912434
- ClinGen CA257317
- ClinVar RCV000015877
- UniProt VAR 007139
- Pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.75
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.75
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Characterization of wild-type and amyotrophic lateral sclerosis-related mutant Cu,Zn-superoxide dismutases overproduced… (PMID 7891072)
- Cited in: Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. (PMID 8351519)