D18E (p.Asp18Glu) variant of G6PC2 (Glucose-6-phosphatase 2)
D18E (p.Asp18Glu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- TOPMed rs759777262
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.25
- CADD 14.80
- PolyPhen-2 0.10
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available