Q85E (p.Gln85Glu) variant of DMD (Dystrophin)
Q85E (p.Gln85Glu) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q85E (p.Gln85Glu) variant details
- p.Gln85Glu
- Ensembl rs128626234
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available