A10S (p.Ala10Ser) variant of GCH1 (GTP cyclohydrolase 1)
A10S (p.Ala10Ser) in GCH1 (GTP cyclohydrolase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- TOPMed rs946737110
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.28
- CADD 11.10
- PolyPhen-2 0.02
- SIFT 0.73
- Population evidence available
- Structural context available