S46G (p.Ser46Gly) variant of GCH1 (GTP cyclohydrolase 1)
S46G (p.Ser46Gly) 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.
S46G (p.Ser46Gly) variant details
- p.Ser46Gly
- ExAC rs773925613
- TOPMed rs773925613
- gnomAD rs773925613
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.31
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available