F46C (p.Phe46Cys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
F46C (p.Phe46Cys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
F46C (p.Phe46Cys) variant details
- p.Phe46Cys
- rs121912457
- ClinGen CA257362
- ClinVar RCV000015904
- UniProt VAR 013525
- Pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis… (PMID 11369193)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)