R25W (p.Arg25Trp) variant of GCH1 (GTP cyclohydrolase 1)
R25W (p.Arg25Trp) 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 Inborn genetic diseases; GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs2040586271
- ClinGen CA389794534
- ClinVar RCV002611010
- TOPMed rs2040586271
- Uncertain significance
- Inborn genetic diseases; GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.15
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; GTP cyclohydrolase I deficiency; Dyston)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)