A39T (p.Ala39Thr) variant of PARK7 (Parkinson disease protein 7)
A39T (p.Ala39Thr) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of found in early-onset Parkinson disease with digenic inheritance. The record also includes structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- TOPMed rs137853051
- Pathogenic
- found in early-onset Parkinson disease with digenic inheritance
- Missense
- EBI: Pathogenic (found in early-onset Parkinson disease with digenic inheritance)
- UniProt: Pathogenic (found in early-onset Parkinson disease with digenic inheritance)
- Structural context available