R6H (p.Arg6His) variant of GLG1 (Golgi apparatus protein 1)
R6H (p.Arg6His) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- TOPMed rs1196932270
- gnomAD rs1196932270
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.87
- CADD 28.80
- PolyPhen-2 0.38
- SIFT 0.00
- Population evidence available
- Structural context available