G203R (p.Gly203Arg) variant of GCH1 (GTP cyclohydrolase 1)
G203R (p.Gly203Arg) 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; not provided. 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.
G203R (p.Gly203Arg) variant details
- p.Gly203Arg
- rs988395114
- ClinGen CA16606864
- cosmic curated COSV54301
- ClinVar RCV000440945
- Pathogenic
- GTP cyclohydrolase I deficiency; Dystonia 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.92
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.37
- ClinVar: Pathogenic (Dystonia 5)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic… (PMID 8852666)
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)