E8D (p.Glu8Asp) variant of DMD (Dystrophin)
E8D (p.Glu8Asp) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- rs1330369801
- ClinGen CA412675118
- ClinVar RCV002015759
- ClinVar RCV006458874
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.37
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)