A94E (p.Ala94Glu) variant of GLG1 (Golgi apparatus protein 1)
A94E (p.Ala94Glu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A94E (p.Ala94Glu) variant details
- p.Ala94Glu
- TOPMed rs1008502647
- gnomAD rs1008502647
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.23
- MetaLR 0.04
- MetaSVM -1.11
- CADD 23.90
- PolyPhen-2 0.43
- SIFT 0.35
- Population evidence available
- Structural context available