R12P (p.Arg12Pro) variant of GLG1 (Golgi apparatus protein 1)
R12P (p.Arg12Pro) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- TOPMed rs1237601743
- gnomAD rs1237601743
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.24
- MetaLR 0.08
- MetaSVM -1.00
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available