E55K (p.Glu55Lys) variant of DMD (Dystrophin)
E55K (p.Glu55Lys) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- rs1603448406
- ClinGen CA412674860
- NCI-TCGA Cosmic COSV5585
- NCI-TCGA Cosmic COSV5588
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.88
- AlphaMissense 0.66
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.90
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- 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)