G33R (p.Gly33Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
G33R (p.Gly33Arg) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- TOPMed rs1199887137
- gnomAD rs1199887137
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.85
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available