G26E (p.Gly26Glu) variant of GLG1 (Golgi apparatus protein 1)
G26E (p.Gly26Glu) in GLG1 (Golgi apparatus protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G26E (p.Gly26Glu) variant details
- p.Gly26Glu
- Ensembl rs1958590909
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -0.87
- CADD 20.70
- PolyPhen-2 0.13
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available