Q13R (p.Gln13Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
Q13R (p.Gln13Arg) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- gnomAD 2-168901369-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.45
- CADD 20.90
- PolyPhen-2 0.26
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available