E55* (p.Glu55Ter) variant of DMD (Dystrophin)
E55* (p.Glu55Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E55* (p.Glu55Ter) variant details
- p.Glu55Ter
- rs1603448406
- ClinGen CA412674861
- cosmic curated COSV55854
- ClinVar RCV002544241
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.66
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)