P42L (p.Pro42Leu) variant of GLG1 (Golgi apparatus protein 1)
P42L (p.Pro42Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- TOPMed rs1401235403
- gnomAD rs1401235403
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.08
- MetaLR 0.02
- MetaSVM -1.02
- CADD 6.79
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available