C7G (p.Cys7Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
C7G (p.Cys7Gly) 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 0.76 / 1. The record also includes published literature and structural context.
C7G (p.Cys7Gly) variant details
- p.Cys7Gly
- rs1312702973
- ClinGen CA410035896
- ClinVar RCV002016002
- gnomAD rs1312702973
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.69
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.22
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients… (PMID 16324086)
- Cited in: Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with… (PMID 17653917)