I49S (p.Ile49Ser) variant of G6PC1 (P35575)
I49S (p.Ile49Ser) in G6PC1 (P35575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
I49S (p.Ile49Ser) variant details
- p.Ile49Ser
- gnomAD 17-42901016-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 20.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available