G56R (p.Gly56Arg) variant of GLG1 (Golgi apparatus protein 1)
G56R (p.Gly56Arg) 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 0.33 / 1. The record also includes population frequency data and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- TOPMed rs867111673
- gnomAD rs867111673
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.08
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available