G17C (p.Gly17Cys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G17C (p.Gly17Cys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- rs121912453
- ClinGen CA410036024
- ClinVar RCV001971733
- gnomAD rs121912453
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.86
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 1.12
- CADD 30.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Population evidence available
- 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)