P47L (p.Pro47Leu) variant of DDC (P20711)
P47L (p.Pro47Leu) in DDC (P20711) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AADCD. The record also includes structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- ExAC rs780542462
- TOPMed rs780542462
- gnomAD rs780542462
- Pathogenic
- in AADCD
- Missense
- EBI: Pathogenic (in AADCD)
- UniProt: Pathogenic (in AADCD)
- Structural context available