A74V (p.Ala74Val) variant of GCH1 (GTP cyclohydrolase 1)
A74V (p.Ala74Val) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRD. The record also includes variant effect predictions, published literature, and structural context.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- UniProt VAR 016889
- Pathogenic
- in DRD
- Missense
- SIFT 0.01
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Structural context available
- Cited in: Dopa-responsive dystonia: a clinical and molecular genetic study. (PMID 9778264)
- Cited in: A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia. (PMID 10076897)