V8E (p.Val8Glu) variant of SOD1 (Superoxide dismutase [Cu-Zn])
V8E (p.Val8Glu) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ALS1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- rs1568807330
- UniProt VAR 007132
- Ensembl rs1568807330
- Pathogenic
- in ALS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.71
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.35
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients… (PMID 7980516)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)