R48K (p.Arg48Lys) variant of DMD (Dystrophin)
R48K (p.Arg48Lys) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Duchenne muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R48K (p.Arg48Lys) variant details
- p.Arg48Lys
- rs1278945683
- ClinGen CA412674899
- ClinVar RCV002998916
- TOPMed rs1278945683
- Likely benign
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.28
- MetaLR 0.70
- MetaSVM 0.09
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Likely benign (Duchenne muscular dystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)