L51P (p.Leu51Pro) variant of DMD (Dystrophin)
L51P (p.Leu51Pro) 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 0.95 / 1. The record also includes published literature and structural context.
L51P (p.Leu51Pro) variant details
- p.Leu51Pro
- rs886044089
- ClinGen CA10606333
- ClinVar RCV000345026
- ClinVar RCV000685041
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- 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)