I150T (p.Ile150Thr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
I150T (p.Ile150Thr) 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 0.95 / 1. The record also includes population frequency data, published literature, and structural context.
I150T (p.Ile150Thr) variant details
- p.Ile150Thr
- rs1424014997
- ClinGen CA410037827
- ClinVar RCV001942245
- ClinVar RCV002473336
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Population evidence available
- Structural context available
- Cited in: Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral… (PMID 7887412)
- Cited in: Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. (PMID 8528216)