H36P (p.His36Pro) variant of GLG1 (Golgi apparatus protein 1)
H36P (p.His36Pro) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H36P (p.His36Pro) variant details
- p.His36Pro
- ExAC rs749137740
- TOPMed rs749137740
- gnomAD rs749137740
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -0.98
- CADD 24.10
- PolyPhen-2 0.27
- SIFT 0.34
- Population evidence available
- Structural context available