G109R (p.Gly109Arg) variant of DMD (Dystrophin)
G109R (p.Gly109Arg) 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.
G109R (p.Gly109Arg) variant details
- p.Gly109Arg
- rs1060502658
- ClinGen CA16616535
- ClinVar RCV000464588
- ClinVar RCV001274387
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- 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)