G4R (p.Gly4Arg) variant of GCH1 (GTP cyclohydrolase 1)
G4R (p.Gly4Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- ExAC rs764013857
- TOPMed rs764013857
- gnomAD rs764013857
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.47
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available