Q16K (p.Gln16Lys) variant of G6PC2 (Glucose-6-phosphatase 2)
Q16K (p.Gln16Lys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q16K (p.Gln16Lys) variant details
- p.Gln16Lys
- gnomAD 2-168901377-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.77
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available