R184H (p.Arg184His) variant of GCH1 (GTP cyclohydrolase 1)
R184H (p.Arg184His) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R184H (p.Arg184His) variant details
- p.Arg184His
- rs104894445
- ClinGen CA120283
- ClinVar RCV000009873
- ClinVar RCV003137509
- Pathogenic
- not provided; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Pathogenic (in HPABH4B)
- UniProt: Pathogenic (in HPABH4B)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. (PMID 7501255)
- Cited in: Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I… (PMID 7730309)