R178S (p.Arg178Ser) variant of GCH1 (GTP cyclohydrolase 1)
R178S (p.Arg178Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R178S (p.Arg178Ser) variant details
- p.Arg178Ser
- UniProt VAR 002642
- Pathogenic
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Population evidence available
- Structural context available
- Cited in: Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of… (PMID 10582612)
- Cited in: Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? (PMID 10825351)