K34E (p.Lys34Glu) variant of DMD (Dystrophin)
K34E (p.Lys34Glu) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- rs1557084280
- ClinGen CA412674997
- ClinVar RCV000592652
- ClinVar RCV001372859
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.49
- AlphaMissense 0.28
- MetaLR 0.76
- MetaSVM 0.54
- CADD 25.30
- PolyPhen-2 0.62
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)