Q48* (p.Gln48Ter) variant of GCH1 (GTP cyclohydrolase 1)
Q48* (p.Gln48Ter) in GCH1 (GTP cyclohydrolase 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- rs104894444
- ClinGen CA254727
- ClinVar RCV000009871
- ClinVar RCV001390287
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia. (PMID 11359069)
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)