D25E (p.Asp25Glu) variant of G6PC1 (P35575)
D25E (p.Asp25Glu) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- ESP rs369488416
- ExAC rs369488416
- gnomAD rs369488416
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.07
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.99
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available