E2E (p.Glu2Glu) variant of G6PC1 (P35575)
E2E (p.Glu2Glu) in G6PC1 (P35575) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs2056020801
- gnomAD 17-42900882-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 8.00
- Population evidence available
- Structural context available
- Literature evidence available