A15V (p.Ala15Val) variant of GLG1 (Golgi apparatus protein 1)
A15V (p.Ala15Val) 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.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- ExAC rs749972416
- TOPMed rs749972416
- gnomAD rs749972416
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available