Q81E (p.Gln81Glu) variant of GLG1 (Golgi apparatus protein 1)
Q81E (p.Gln81Glu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q81E (p.Gln81Glu) variant details
- p.Gln81Glu
- ExAC rs746542614
- TOPMed rs746542614
- gnomAD rs746542614
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.05
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available