N87S (p.Asn87Ser) variant of SOD1 (Superoxide dismutase [Cu-Zn])
N87S (p.Asn87Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N87S (p.Asn87Ser) variant details
- p.Asn87Ser
- rs11556620
- ClinGen CA319334574
- ClinVar RCV000529591
- ClinVar RCV006277891
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.85
- MetaLR 1.00
- MetaSVM 0.94
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China. (PMID 27604643)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)