D2G (p.Asp2Gly) variant of G6PC2 (Glucose-6-phosphatase 2)
D2G (p.Asp2Gly) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- gnomAD 2-168901336-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.71
- CADD 24.20
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available