A25V (p.Ala25Val) variant of GLG1 (Golgi apparatus protein 1)
A25V (p.Ala25Val) 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.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD rs1378384247
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.03
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.86
- Population evidence available
- Structural context available