I114T (p.Ile114Thr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I114T (p.Ile114Thr) 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 Spastic tetraplegia and axial hypotonia, progressive; Motor neuron disease; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
I114T (p.Ile114Thr) variant details
- p.Ile114Thr
- rs121912441
- ClinGen CA275244
- ClinVar RCV000178103
- ClinVar RCV000255754
- Pathogenic/Likely pathogenic
- Spastic tetraplegia and axial hypotonia, progressive; Motor neuron disease; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.97
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Spastic tetraplegia and axial hypotonia, progressive; Motor neur)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease… (PMID 10400992)
- Cited in: A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its… (PMID 10732812)