G17A (p.Gly17Ala) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G17A (p.Gly17Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs1200906022
- ClinGen CA410036027
- ClinVar RCV000713408
- ClinVar RCV001386880
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.85
- MetaLR 1.00
- MetaSVM 0.79
- PolyPhen-2 0.85
- SIFT 0.01
- EVE 0.57
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 1; not provided)
- 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)