G4D (p.Gly4Asp) variant of GCH1 (GTP cyclohydrolase 1)
G4D (p.Gly4Asp) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dystonia 5; GTP cyclohydrolase I deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G4D (p.Gly4Asp) variant details
- p.Gly4Asp
- rs2140127797
- ClinGen CA389794965
- ClinVar RCV001806483
- ClinVar RCV003772219
- Uncertain significance
- not provided; Dystonia 5; GTP cyclohydrolase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.43
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Dystonia 5; GTP cyclohydrolase I deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)