Q83L (p.Gln83Leu) variant of GLG1 (Golgi apparatus protein 1)
Q83L (p.Gln83Leu) 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.
Q83L (p.Gln83Leu) variant details
- p.Gln83Leu
- TOPMed rs1298610882
- gnomAD rs1298610882
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -1.05
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available