A44V (p.Ala44Val) variant of GLG1 (Golgi apparatus protein 1)
A44V (p.Ala44Val) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- ExAC rs745729985
- gnomAD rs745729985
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.00
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available