Q13* (p.Gln13Ter) variant of G6PC2 (Glucose-6-phosphatase 2)
Q13* (p.Gln13Ter) in G6PC2 (Glucose-6-phosphatase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- gnomAD 2-168901368-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available