G26R (p.Gly26Arg) variant of GLG1 (Golgi apparatus protein 1)
G26R (p.Gly26Arg) 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 0.20 / 1. The record also includes population frequency data and structural context.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- rs1160448076
- ClinGen CA396761873
- ClinVar RCV004132775
- TOPMed rs1160448076
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.06
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available