A44V (p.Ala44Val) variant of GCH1 (GTP cyclohydrolase 1)
A44V (p.Ala44Val) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The record also includes variant effect predictions and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- TOPMed rs2040584625
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- SIFT 0.27
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- UniProt: Uncertain significance
- Structural context available