Q89R (p.Gln89Arg) variant of GCH1 (GTP cyclohydrolase 1)
Q89R (p.Gln89Arg) 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 0.74 / 1. The record also includes published literature and structural context.
Q89R (p.Gln89Arg) variant details
- p.Gln89Arg
- rs2140127145
- ClinGen CA389793737
- ClinVar RCV001896308
- Ensembl rs2140127145
- Uncertain significance
- Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.38
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.33
- SIFT 0.00
- EVE 0.50
- 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)