Q16R (p.Gln16Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
Q16R (p.Gln16Arg) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- ExAC rs769873771
- TOPMed rs769873771
- gnomAD rs769873771
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.89
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available