G13R (p.Gly13Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
G13R (p.Gly13Arg) 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 0.70 / 1. The record also includes published literature and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs121912456
- ClinGen CA257360
- ClinVar RCV000015903
- UniProt VAR 013521
- Likely pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.40
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.17
- ClinVar: Likely pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: A SOD1 gene mutation in a patient with slowly progressing familial ALS. (PMID 10430435)
- Cited in: Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis… (PMID 11369193)