V6M (p.Val6Met) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V6M (p.Val6Met) 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 record also includes published literature and structural context.
V6M (p.Val6Met) variant details
- p.Val6Met
- rs1568807314
- ClinGen CA410035888
- ClinVar RCV002605188
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)