G55V (p.Gly55Val) variant of GCH1 (GTP cyclohydrolase 1)
G55V (p.Gly55Val) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
G55V (p.Gly55Val) variant details
- p.Gly55Val
- TOPMed rs1464045587
- gnomAD rs1464045587
- Uncertain significance
- Missense
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available