G86S (p.Gly86Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G86S (p.Gly86Ser) 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 Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G86S (p.Gly86Ser) variant details
- p.Gly86Ser
- rs121912436
- ClinGen CA410037406
- ClinVar RCV001199223
- ClinVar RCV002560266
- Pathogenic/Likely pathogenic
- Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclero
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Spastic tetraplegia and axial hypotonia, progressive; Amyotrophi)
- 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)