F46C (p.Phe46Cys) variant of GLG1 (Golgi apparatus protein 1)
F46C (p.Phe46Cys) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F46C (p.Phe46Cys) variant details
- p.Phe46Cys
- ExAC rs751301270
- TOPMed rs751301270
- gnomAD rs751301270
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.01
- CADD 21.00
- SIFT 0.18
- Population evidence available
- Structural context available