Q82L (p.Gln82Leu) variant of GLG1 (Golgi apparatus protein 1)
Q82L (p.Gln82Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q82L (p.Gln82Leu) variant details
- p.Gln82Leu
- TOPMed rs1340690931
- gnomAD rs1340690931
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.04
- CADD 17.20
- PolyPhen-2 0.02
- SIFT 0.83
- Population evidence available
- Structural context available