G8E (p.Gly8Glu) variant of G6PC2 (Glucose-6-phosphatase 2)
G8E (p.Gly8Glu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- ESP rs368382511
- TOPMed rs368382511
- gnomAD rs368382511
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.41
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available