W118C (p.Trp118Cys) variant of DMD (Dystrophin)
W118C (p.Trp118Cys) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in a patient with Becker muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
W118C (p.Trp118Cys) variant details
- p.Trp118Cys
- rs2148849959
- ClinGen CA412674415
- ClinVar RCV002018383
- Ensembl rs2148849959
- Pathogenic
- in a patient with Becker muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- EBI: Pathogenic (in a patient with Becker muscular dystrophy)
- UniProt: Pathogenic (in a patient with Becker muscular dystrophy)
- 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)