L85F (p.Leu85Phe) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L85F (p.Leu85Phe) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
L85F (p.Leu85Phe) variant details
- p.Leu85Phe
- rs1315541036
- ClinGen CA410037403
- ClinVar RCV001061075
- ClinVar RCV005409768
- Pathogenic/Likely pathogenic
- Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclero
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.63
- MetaLR 1.00
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic/Likely pathogenic (Spastic tetraplegia and axial hypotonia, progressive; Amyotrophi)
- 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)