L57P (p.Leu57Pro) variant of DMD (Dystrophin)
L57P (p.Leu57Pro) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs886044431
- ClinGen CA10606746
- ClinVar RCV000359243
- ClinVar RCV002470839
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.94
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.20
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)