V50I (p.Val50Ile) variant of GLG1 (Golgi apparatus protein 1)
V50I (p.Val50Ile) 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.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- ExAC rs760103653
- TOPMed rs760103653
- gnomAD rs760103653
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.02
- CADD 2.01
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available