R184C (p.Arg184Cys) variant of GCH1 (GTP cyclohydrolase 1)
R184C (p.Arg184Cys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R184C (p.Arg184Cys) variant details
- p.Arg184Cys
- rs2140041841
- ClinGen CA389787405
- ClinVar RCV001951575
- ClinVar RCV003223747
- Conflicting interpretations
- not provided; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.89
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.42
- ClinVar: Conflicting classifications of pathogenicity (not provided; Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Pathogenic (in HPABH4B)
- UniProt: Pathogenic (in HPABH4B)
- Population evidence available
- 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)