L54R (p.Leu54Arg) variant of DMD (Dystrophin)
L54R (p.Leu54Arg) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DMD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
L54R (p.Leu54Arg) variant details
- p.Leu54Arg
- rs128626231
- ClinGen CA341034
- ClinVar RCV000011979
- UniProt VAR 005147
- Pathogenic
- in DMD
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- EBI: Pathogenic (in DMD)
- UniProt: Pathogenic (in DMD)
- Structural context available
- Cited in: Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal… (PMID 31671740)
- Cited in: A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. (PMID 8401582)