A24V (p.Ala24Val) variant of GLG1 (Golgi apparatus protein 1)
A24V (p.Ala24Val) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- ExAC rs763349183
- TOPMed rs763349183
- gnomAD rs763349183
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.04
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available