D46V (p.Asp46Val) variant of DMD (Dystrophin)
D46V (p.Asp46Val) 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 0.93 / 1. The record also includes published literature and structural context.
D46V (p.Asp46Val) variant details
- p.Asp46Val
- rs398123858
- ClinGen CA266886
- ClinVar RCV001061449
- ClinVar RCV003144125
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- 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)