L145S (p.Leu145Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
L145S (p.Leu145Ser) 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 not provided; Amyotrophic lateral sclerosis type 1; Limb muscle weakness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L145S (p.Leu145Ser) variant details
- p.Leu145Ser
- rs121912446
- ClinGen CA257339
- ClinVar RCV000015891
- ClinVar RCV000516860
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 1; Limb muscle weakness
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.73
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.21
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 1; Limb muscle)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial… (PMID 7496169)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)