E22K (p.Glu22Lys) variant of SOD1 (Superoxide dismutase [Cu-Zn])
E22K (p.Glu22Lys) 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 0.67 / 1. The record also includes published literature and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs121912450
- ClinGen CA257347
- ClinVar RCV000015896
- UniProt VAR 007135
- Pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.34
- MetaLR 0.94
- MetaSVM 1.02
- PolyPhen-2 0.90
- SIFT 0.13
- EVE 0.14
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the… (PMID 8069312)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)