L91Q (p.Leu91Gln) variant of GCH1 (GTP cyclohydrolase 1)
L91Q (p.Leu91Gln) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The record also includes published literature and structural context.
L91Q (p.Leu91Gln) variant details
- p.Leu91Gln
- rs2504539343
- ClinGen CA389793715
- ClinVar RCV003027954
- Likely pathogenic
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- ClinVar: Likely pathogenic (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)