A90T (p.Ala90Thr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A90T (p.Ala90Thr) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Amyotrophic lateral sclerosis type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A90T (p.Ala90Thr) variant details
- p.Ala90Thr
- rs1568810660
- ClinGen CA410037429
- NCI-TCGA Cosmic COSV5425
- cosmic curated COSV54255
- Conflicting interpretations
- Amyotrophic lateral sclerosis type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.82
- MetaLR 0.98
- MetaSVM 1.09
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Amyotrophic lateral sclerosis type 1; not provided)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of… (PMID 14506936)
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)