L30H (p.Leu30His) variant of GLG1 (Golgi apparatus protein 1)
L30H (p.Leu30His) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L30H (p.Leu30His) variant details
- p.Leu30His
- TOPMed rs1040115753
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.04
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.55
- Population evidence available
- Structural context available