Q83E (p.Gln83Glu) variant of GLG1 (Golgi apparatus protein 1)
Q83E (p.Gln83Glu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q83E (p.Gln83Glu) variant details
- p.Gln83Glu
- 1000Genomes rs777092859
- ExAC rs777092859
- gnomAD rs777092859
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.02
- CADD 4.52
- SIFT 1.00
- Population evidence available
- Structural context available