A5T (p.Ala5Thr) variant of SOD1 (Superoxide dismutase [Cu-Zn])
A5T (p.Ala5Thr) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs121912444
- ClinGen CA257337
- ClinVar RCV000015887
- ClinVar RCV000518527
- Pathogenic
- not provided; Amyotrophic lateral sclerosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.85
- AlphaMissense 0.55
- MetaLR 0.99
- MetaSVM 1.16
- CADD 32.00
- PolyPhen-2 0.39
- ClinVar: Pathogenic (not provided; Amyotrophic lateral sclerosis type 1)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Population evidence available
- Structural context available
- Cited in: Leu106-->Val (CTC-->GTC) mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis… (PMID 7911198)
- Cited in: A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. (PMID 8179602)