Q78R (p.Gln78Arg) variant of GLG1 (Golgi apparatus protein 1)
Q78R (p.Gln78Arg) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q78R (p.Gln78Arg) variant details
- p.Gln78Arg
- ExAC rs781248538
- gnomAD rs781248538
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.00
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.52
- Population evidence available
- Structural context available