H36Q (p.His36Gln) variant of GLG1 (Golgi apparatus protein 1)
H36Q (p.His36Gln) 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.
H36Q (p.His36Gln) variant details
- p.His36Gln
- Ensembl rs1958588774
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.08
- CADD 21.10
- PolyPhen-2 0.06
- SIFT 0.63
- Population evidence available
- Structural context available