E8K (p.Glu8Lys) variant of DMD (Dystrophin)
E8K (p.Glu8Lys) 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 0.67 / 1. The record also includes published literature and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- rs2148864111
- ClinGen CA412675124
- ClinVar RCV002008777
- Ensembl rs2148864111
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.28
- MetaLR 0.80
- MetaSVM 0.47
- SIFT 0.00
- MutPred 0.42
- 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)