G31V (p.Gly31Val) variant of GCH1 (GTP cyclohydrolase 1)
G31V (p.Gly31Val) 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 GCH1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- rs1463121244
- ClinGen CA389794416
- ClinVar RCV003957025
- TOPMed rs1463121244
- Uncertain significance
- GCH1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.31
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (GCH1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available