G54R (p.Gly54Arg) variant of GLG1 (Golgi apparatus protein 1)
G54R (p.Gly54Arg) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- gnomAD rs1336381615
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.03
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available