L46L (p.Leu46Leu) variant of G6PC1 (P35575)
L46L (p.Leu46Leu) in G6PC1 (P35575) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L46L (p.Leu46Leu) variant details
- p.Leu46Leu
- rs1408032738
- gnomAD 17-42901014-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 9.98
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available