V7A (p.Val7Ala) variant of GLG1 (Golgi apparatus protein 1)
V7A (p.Val7Ala) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- TOPMed rs1232965686
- gnomAD rs1232965686
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.20
- MetaLR 0.08
- MetaSVM -0.97
- CADD 24.90
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available