R70* (p.Arg70Ter) variant of DMD (Dystrophin)
R70* (p.Arg70Ter) 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 0.94 / 1. The record also includes published literature and structural context.
R70* (p.Arg70Ter) variant details
- p.Arg70Ter
- rs2080510348
- ClinGen CA412674751
- ClinVar RCV001781978
- ClinVar RCV002246496
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.81
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)