R12H (p.Arg12His) variant of GLG1 (Golgi apparatus protein 1)
R12H (p.Arg12His) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- TOPMed rs1237601743
- gnomAD rs1237601743
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.07
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.53
- Population evidence available
- Structural context available