Q83R (p.Gln83Arg) variant of GLG1 (Golgi apparatus protein 1)
Q83R (p.Gln83Arg) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q83R (p.Gln83Arg) variant details
- p.Gln83Arg
- TOPMed rs1298610882
- gnomAD rs1298610882
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.05
- CADD 8.20
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available