A2P (p.Ala2Pro) variant of GLG1 (Golgi apparatus protein 1)
A2P (p.Ala2Pro) 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.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- Ensembl rs1597394728
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -0.90
- CADD 28.00
- PolyPhen-2 0.40
- SIFT 0.00
- Population evidence available
- Structural context available