R9W (p.Arg9Trp) variant of GLG1 (Golgi apparatus protein 1)
R9W (p.Arg9Trp) in GLG1 (Golgi apparatus protein 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.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- ExAC rs769807372
- TOPMed rs769807372
- gnomAD rs769807372
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -1.06
- CADD 29.60
- PolyPhen-2 0.62
- SIFT 0.04
- Population evidence available
- Structural context available