E84* (p.Glu84Ter) variant of GCH1 (GTP cyclohydrolase 1)
E84* (p.Glu84Ter) 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 0.88 / 1. The record also includes published literature and structural context.
E84* (p.Glu84Ter) variant details
- p.Glu84Ter
- rs755556239
- ClinGen CA389793795
- ClinVar RCV001231564
- ClinVar RCV002250735
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)