S100P (p.Ser100Pro) variant of GCH1 (GTP cyclohydrolase 1)
S100P (p.Ser100Pro) 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; GTP cyclohydrolase I deficiency. The record also includes published literature and structural context.
S100P (p.Ser100Pro) variant details
- p.Ser100Pro
- rs2504539183
- ClinGen CA389793617
- ClinVar RCV002994093
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency)
- 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)