E28K (p.Glu28Lys) variant of GLG1 (Golgi apparatus protein 1)
E28K (p.Glu28Lys) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- gnomAD rs1187029835
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.19
- MetaLR 0.06
- MetaSVM -1.03
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.92
- Population evidence available
- Structural context available