G5V (p.Gly5Val) variant of GLG1 (Golgi apparatus protein 1)
G5V (p.Gly5Val) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- ExAC rs760208774
- gnomAD rs760208774
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.23
- MetaLR 0.24
- MetaSVM -0.58
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.18
- Population evidence available
- Structural context available