Q16H (p.Gln16His) variant of G6PC2 (Glucose-6-phosphatase 2)
Q16H (p.Gln16His) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- 1000Genomes rs372008743
- ESP rs372008743
- ExAC rs372008743
- TOPMed rs372008743
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.78
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available