G47V (p.Gly47Val) variant of DMD (Dystrophin)
G47V (p.Gly47Val) in DMD (Dystrophin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55879
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available