A5S (p.Ala5Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A5S (p.Ala5Ser) 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 0.75 / 1. The record also includes published literature and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- rs121912444
- ClinGen CA410035885
- ClinVar RCV001095541
- UniProt VAR 013518
- Pathogenic
- Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.55
- MetaLR 0.99
- MetaSVM 1.16
- PolyPhen-2 0.39
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Structural context available
- Cited in: Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass… (PMID 9696308)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)