A47E (p.Ala47Glu) variant of GCH1 (GTP cyclohydrolase 1)
A47E (p.Ala47Glu) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A47E (p.Ala47Glu) variant details
- p.Ala47Glu
- rs2040584415
- ClinGen CA389794188
- ClinVar RCV001966392
- TOPMed rs2040584415
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.28
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.21
- 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)