L57R (p.Leu57Arg) variant of DMD (Dystrophin)
L57R (p.Leu57Arg) 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 0.97 / 1. The record also includes published literature and structural context.
L57R (p.Leu57Arg) variant details
- p.Leu57Arg
- rs886044431
- ClinGen CA412674844
- ClinVar RCV000757168
- ClinVar RCV006556615
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- 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)