S60G (p.Ser60Gly) variant of GCH1 (GTP cyclohydrolase 1)
S60G (p.Ser60Gly) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S60G (p.Ser60Gly) variant details
- p.Ser60Gly
- TOPMed rs2040583421
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.50
- CADD 22.20
- PolyPhen-2 0.22
- SIFT 0.06
- Population evidence available
- Structural context available