W53* (p.Trp53Ter) variant of GCH1 (GTP cyclohydrolase 1)
W53* (p.Trp53Ter) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
W53* (p.Trp53Ter) variant details
- p.Trp53Ter
- rs2140127425
- ClinGen CA389794128
- ClinVar RCV001382935
- Ensembl rs2140127425
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)