Q48K (p.Gln48Lys) variant of GCH1 (GTP cyclohydrolase 1)
Q48K (p.Gln48Lys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
Q48K (p.Gln48Lys) variant details
- p.Gln48Lys
- TOPMed rs104894444
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available