D34E (p.Asp34Glu) variant of G6PC2 (Glucose-6-phosphatase 2)
D34E (p.Asp34Glu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- gnomAD 2-168901433-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.40
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available