P90L (p.Pro90Leu) variant of GLG1 (Golgi apparatus protein 1)
P90L (p.Pro90Leu) 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.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- TOPMed rs1486345949
- gnomAD rs1486345949
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -0.99
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available