L46S (p.Leu46Ser) variant of G6PC1 (P35575)
L46S (p.Leu46Ser) in G6PC1 (P35575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L46S (p.Leu46Ser) variant details
- p.Leu46Ser
- rs1057517227
- gnomAD 17-42901010-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 22.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available