R6G (p.Arg6Gly) variant of GLG1 (Golgi apparatus protein 1)
R6G (p.Arg6Gly) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- TOPMed rs1257521637
- gnomAD rs1257521637
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.22
- MetaLR 0.11
- MetaSVM -0.92
- CADD 26.60
- PolyPhen-2 0.23
- SIFT 0.00
- Population evidence available
- Structural context available