S60R (p.Ser60Arg) variant of GCH1 (GTP cyclohydrolase 1)
S60R (p.Ser60Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S60R (p.Ser60Arg) variant details
- p.Ser60Arg
- TOPMed rs2040583421
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.58
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.06
- Population evidence available
- Structural context available