A27D (p.Ala27Asp) variant of GLG1 (Golgi apparatus protein 1)
A27D (p.Ala27Asp) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- ExAC rs775681020
- gnomAD rs775681020
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.00
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.26
- Population evidence available
- Structural context available