R57L (p.Arg57Leu) variant of GCH1 (GTP cyclohydrolase 1)
R57L (p.Arg57Leu) in GCH1 (GTP cyclohydrolase 1) is a missense change. The record also includes variant effect predictions and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- cosmic curated COSV99582
- Missense
- SIFT 0.04
- Structural context available