S33G (p.Ser33Gly) variant of GCH1 (GTP cyclohydrolase 1)
S33G (p.Ser33Gly) 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 0.25 / 1. The record also includes population frequency data and structural context.
S33G (p.Ser33Gly) variant details
- p.Ser33Gly
- gnomAD rs1373130817
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.22
- CADD 18.20
- PolyPhen-2 0.06
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available