G39D (p.Gly39Asp) variant of GLG1 (Golgi apparatus protein 1)
G39D (p.Gly39Asp) 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.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- TOPMed rs1958588366
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.11
- MetaLR 0.03
- MetaSVM -1.01
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available