R8Q (p.Arg8Gln) variant of GLG1 (Golgi apparatus protein 1)
R8Q (p.Arg8Gln) 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.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- ExAC rs567707138
- TOPMed rs567707138
- gnomAD rs567707138
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available