P93L (p.Pro93Leu) variant of GLG1 (Golgi apparatus protein 1)
P93L (p.Pro93Leu) 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.
P93L (p.Pro93Leu) variant details
- p.Pro93Leu
- TOPMed rs979158504
- gnomAD rs979158504
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available