L74P (p.Leu74Pro) variant of DMD (Dystrophin)
L74P (p.Leu74Pro) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Duchenne muscular dystrophy. The record also includes published literature and structural context.
L74P (p.Leu74Pro) variant details
- p.Leu74Pro
- rs2524853552
- ClinGen CA412674722
- ClinVar RCV003989371
- Uncertain significance
- Cardiovascular phenotype; Duchenne muscular dystrophy
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Duchenne muscular dystrophy)
- 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)