E56G (p.Glu56Gly) variant of GCH1 (GTP cyclohydrolase 1)
E56G (p.Glu56Gly) in GCH1 (GTP cyclohydrolase 1) is a missense change. The record also includes variant effect predictions and structural context.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- gnomAD rs1376965947
- Missense
- SIFT 0.04
- Structural context available