L32* (p.Leu32Ter) variant of G6PC1 (P35575)
L32* (p.Leu32Ter) in G6PC1 (P35575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L32* (p.Leu32Ter) variant details
- p.Leu32Ter
- TOPMed rs1825598245
- gnomAD rs1825598245
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available