C18Y (p.Cys18Tyr) variant of GCH1 (GTP cyclohydrolase 1)
C18Y (p.Cys18Tyr) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data and structural context.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- TOPMed rs2040586875
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.51
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available