I115V (p.Ile115Val) variant of DMD (Dystrophin)
I115V (p.Ile115Val) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystroph. The record also includes structural context.
I115V (p.Ile115Val) variant details
- p.Ile115Val
- Ensembl rs796935163
- Uncertain significance
- Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystroph
- Missense
- ClinVar: Uncertain significance (Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dys)
- UniProt: Uncertain significance
- Structural context available