R82L (p.Arg82Leu) variant of DMD (Dystrophin)
R82L (p.Arg82Leu) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Duchenne muscular dystrophy. The record also includes structural context.
R82L (p.Arg82Leu) variant details
- p.Arg82Leu
- NCI-TCGA Cosmic COSV5588
- NCI-TCGA Cosmic COSV9992
- cosmic curated COSV99922
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- UniProt: Uncertain significance
- Structural context available