T55R (p.Thr55Arg) variant of SOD1 (Superoxide dismutase [Cu-Zn])
T55R (p.Thr55Arg) in SOD1 (Superoxide dismutase [Cu-Zn]) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T55R (p.Thr55Arg) variant details
- p.Thr55Arg
- rs986277034
- UniProt VAR 045879
- Ensembl rs986277034
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 1.02
- CADD 24.50
- PolyPhen-2 0.56
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in ALS1)
- UniProt: Pathogenic (in ALS1)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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: SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization. (PMID 18301754)