G55D (p.Gly55Asp) variant of GCH1 (GTP cyclohydrolase 1)
G55D (p.Gly55Asp) 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 GTP cyclohydrolase I deficiency; Dystonia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G55D (p.Gly55Asp) variant details
- p.Gly55Asp
- rs1464045587
- ClinGen CA389794102
- ClinVar RCV003785014
- TOPMed rs1464045587
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.24
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- 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)