R6L (p.Arg6Leu) variant of GLG1 (Golgi apparatus protein 1)
R6L (p.Arg6Leu) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- TOPMed rs1196932270
- gnomAD rs1196932270
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.20
- MetaLR 0.13
- MetaSVM -0.96
- CADD 24.80
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available