G51V (p.Gly51Val) variant of GLG1 (Golgi apparatus protein 1)
G51V (p.Gly51Val) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- TOPMed rs1289839173
- gnomAD rs1289839173
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.02
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available