G31E (p.Gly31Glu) variant of GCH1 (GTP cyclohydrolase 1)
G31E (p.Gly31Glu) 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 0.30 / 1. The record also includes population frequency data and structural context.
G31E (p.Gly31Glu) variant details
- p.Gly31Glu
- TOPMed rs1463121244
- gnomAD rs1463121244
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.33
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available