R82P (p.Arg82Pro) variant of DMD (Dystrophin)
R82P (p.Arg82Pro) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
R82P (p.Arg82Pro) variant details
- p.Arg82Pro
- rs1228664222
- ClinGen CA412674671
- ClinVar RCV000698008
- ClinVar RCV000727670
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.06
- MetaLR 0.37
- MetaSVM -0.55
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.45
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)