L39R (p.Leu39Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L39R (p.Leu39Arg) 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 0.93 / 1. The record also includes published literature and structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- rs1555836520
- UniProt VAR 013524
- Ensembl rs1555836520
- Pathogenic
- in ALS1
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- 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)