W96* (p.Trp96Ter) variant of GCH1 (GTP cyclohydrolase 1)
W96* (p.Trp96Ter) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
W96* (p.Trp96Ter) variant details
- p.Trp96Ter
- rs1482120639
- ClinGen CA389793669
- ClinVar RCV002468715
- TOPMed rs1482120639
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)