Q40H (p.Gln40His) variant of GLG1 (Golgi apparatus protein 1)
Q40H (p.Gln40His) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- TOPMed rs1958588223
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.02
- CADD 17.40
- PolyPhen-2 0.05
- SIFT 0.18
- Population evidence available
- Structural context available