R8P (p.Arg8Pro) variant of GLG1 (Golgi apparatus protein 1)
R8P (p.Arg8Pro) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- ExAC rs567707138
- TOPMed rs567707138
- gnomAD rs567707138
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.28
- MetaLR 0.09
- MetaSVM -1.03
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available