Q51K (p.Gln51Lys) variant of G6PC2 (Glucose-6-phosphatase 2)
Q51K (p.Gln51Lys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q51K (p.Gln51Lys) variant details
- p.Gln51Lys
- gnomAD 2-168901482-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.19
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available