H36D (p.His36Asp) variant of GLG1 (Golgi apparatus protein 1)
H36D (p.His36Asp) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H36D (p.His36Asp) variant details
- p.His36Asp
- TOPMed rs1199814593
- gnomAD rs1199814593
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -0.96
- CADD 22.90
- SIFT 0.45
- Population evidence available
- Structural context available