R6P (p.Arg6Pro) variant of GLG1 (Golgi apparatus protein 1)
R6P (p.Arg6Pro) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- TOPMed rs1196932270
- gnomAD rs1196932270
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.24
- MetaLR 0.14
- MetaSVM -0.87
- CADD 28.70
- PolyPhen-2 0.41
- SIFT 0.00
- Population evidence available
- Structural context available