Q14* (p.Gln14Ter) variant of G6PC1 (P35575)
Q14* (p.Gln14Ter) in G6PC1 (P35575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q14* (p.Gln14Ter) variant details
- p.Gln14Ter
- gnomAD 17-42900916-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 35.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available