Q33K (p.Gln33Lys) variant of GLG1 (Golgi apparatus protein 1)
Q33K (p.Gln33Lys) 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.
Q33K (p.Gln33Lys) variant details
- p.Gln33Lys
- Ensembl rs867240263
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.03
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available