R97W (p.Arg97Trp) variant of GCH1 (GTP cyclohydrolase 1)
R97W (p.Arg97Trp) 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 Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R97W (p.Arg97Trp) variant details
- p.Arg97Trp
- rs2140127094
- ClinGen CA389793658
- ClinVar RCV002035546
- Ensembl rs2140127094
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Uncertain significance (Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)