E24* (p.Glu24Ter) variant of GCH1 (GTP cyclohydrolase 1)
E24* (p.Glu24Ter) in GCH1 (GTP cyclohydrolase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- TOPMed rs1444127928
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 36.00
- Population evidence available
- Structural context available