L26* (p.Leu26Ter) variant of G6PC2 (Glucose-6-phosphatase 2)
L26* (p.Leu26Ter) in G6PC2 (Glucose-6-phosphatase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L26* (p.Leu26Ter) variant details
- p.Leu26Ter
- rs1270007918
- gnomAD 2-168901402-CT-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available