G43A (p.Gly43Ala) variant of GLG1 (Golgi apparatus protein 1)
G43A (p.Gly43Ala) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- TOPMed rs1958587641
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.01
- CADD 0.92
- PolyPhen-2 0.00
- SIFT 0.77
- Population evidence available
- Structural context available