G56V (p.Gly56Val) variant of DMD (Dystrophin)
G56V (p.Gly56Val) 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 0.56 / 1. The record also includes published literature and structural context.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- rs2149014905
- ClinGen CA412674848
- ClinVar RCV002046590
- Ensembl rs2149014905
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 0.19
- MetaLR 0.64
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.32
- MutPred 0.45
- 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)