E28D (p.Glu28Asp) variant of GLG1 (Golgi apparatus protein 1)
E28D (p.Glu28Asp) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- cosmic curated COSV99215
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.04
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available
- Structural context available