E50K (p.Glu50Lys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E50K (p.Glu50Lys) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs1568809178
- ClinGen CA410036759
- ClinVar RCV000815816
- ClinVar RCV004745611
- Uncertain significance
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.40
- MetaLR 0.99
- MetaSVM 1.10
- PolyPhen-2 0.04
- SIFT 0.01
- EVE 0.32
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. (PMID 9706719)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)