E43* (p.Glu43Ter) variant of GCH1 (GTP cyclohydrolase 1)
E43* (p.Glu43Ter) in GCH1 (GTP cyclohydrolase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E43* (p.Glu43Ter) variant details
- p.Glu43Ter
- gnomAD rs1255523585
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 36.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available