L92P (p.Leu92Pro) variant of GCH1 (GTP cyclohydrolase 1)
L92P (p.Leu92Pro) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dystonia 5. The record also includes published literature and structural context.
L92P (p.Leu92Pro) variant details
- p.Leu92Pro
- rs2504539308
- ClinGen CA389793709
- ClinVar RCV003142379
- Uncertain significance
- Dystonia 5
- Missense
- ClinVar: Uncertain significance (Dystonia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)