E41G (p.Glu41Gly) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E41G (p.Glu41Gly) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
E41G (p.Glu41Gly) variant details
- p.Glu41Gly
- rs1568809149
- ClinGen CA410036675
- ClinVar RCV000697630
- Ensembl rs1568809149
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.13
- MetaLR 0.96
- MetaSVM 1.33
- PolyPhen-2 0.28
- SIFT 0.03
- EVE 0.20
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic
- UniProt: 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)