A90V (p.Ala90Val) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A90V (p.Ala90Val) 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 not provided; Amyotrophic lateral sclerosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- rs1280042397
- ClinGen CA410037432
- ClinVar RCV001552307
- ClinVar RCV002568339
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.83
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation. (PMID 31086828)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)