R88W (p.Arg88Trp) variant of GCH1 (GTP cyclohydrolase 1)
R88W (p.Arg88Trp) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R88W (p.Arg88Trp) variant details
- p.Arg88Trp
- rs104894433
- ClinGen CA254718
- ClinVar RCV000009853
- UniProt VAR 002636
- Pathogenic
- Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Dystonia 5)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Structural context available
- Cited in: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. (PMID 7874165)
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)