V50L (p.Val50Leu) variant of GLG1 (Golgi apparatus protein 1)
V50L (p.Val50Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- ExAC rs760103653
- TOPMed rs760103653
- gnomAD rs760103653
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.03
- CADD 1.92
- SIFT 1.00
- Population evidence available
- Structural context available