V7L (p.Val7Leu) variant of GLG1 (Golgi apparatus protein 1)
V7L (p.Val7Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- ExAC rs767306994
- TOPMed rs767306994
- gnomAD rs767306994
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.22
- MetaLR 0.12
- MetaSVM -0.87
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available