F46S (p.Phe46Ser) variant of GLG1 (Golgi apparatus protein 1)
F46S (p.Phe46Ser) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F46S (p.Phe46Ser) variant details
- p.Phe46Ser
- ExAC rs751301270
- TOPMed rs751301270
- gnomAD rs751301270
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.00
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.40
- Population evidence available
- Structural context available