A61E (p.Ala61Glu) variant of G6PC2 (Glucose-6-phosphatase 2)
A61E (p.Ala61Glu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A61E (p.Ala61Glu) variant details
- p.Ala61Glu
- gnomAD 2-168901513-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.81
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available