E65Q (p.Glu65Gln) variant of DMD (Dystrophin)
E65Q (p.Glu65Gln) 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 0.82 / 1. The record also includes published literature and structural context.
E65Q (p.Glu65Gln) variant details
- p.Glu65Gln
- rs2148984839
- ClinGen CA412674782
- ClinVar RCV002041946
- Ensembl rs2148984839
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.77
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)