R57Q (p.Arg57Gln) variant of GCH1 (GTP cyclohydrolase 1)
R57Q (p.Arg57Gln) 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 GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- rs756782285
- ClinGen CA7193670
- ClinVar RCV002882312
- ExAC rs756782285
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.47
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)