Q28E (p.Gln28Glu) variant of DMD (Dystrophin)
Q28E (p.Gln28Glu) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q28E (p.Gln28Glu) variant details
- p.Gln28Glu
- rs1477536019
- ClinGen CA412675237
- ClinVar RCV002046462
- gnomAD rs1477536019
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.71
- MetaLR 0.91
- MetaSVM 1.02
- CADD 23.10
- PolyPhen-2 0.17
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)