Q180R (p.Gln180Arg) variant of GCH1 (GTP cyclohydrolase 1)
Q180R (p.Gln180Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dystonia 5; GTP cyclohydrolase I deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q180R (p.Gln180Arg) variant details
- p.Gln180Arg
- rs1566660298
- ClinGen CA389787448
- ClinVar RCV000699765
- ClinVar RCV002259363
- Pathogenic/Likely pathogenic
- Dystonia 5; GTP cyclohydrolase I deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.88
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Dystonia 5; GTP cyclohydrolase I deficiency; not provided)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Population evidence available
- Structural context available
- Cited in: Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? (PMID 10825351)
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)