S33R (p.Ser33Arg) variant of GCH1 (GTP cyclohydrolase 1)
S33R (p.Ser33Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. 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.
S33R (p.Ser33Arg) variant details
- p.Ser33Arg
- TOPMed rs1320254777
- gnomAD rs1320254777
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.23
- CADD 16.10
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available