I13S (p.Ile13Ser) variant of G6PC1 (P35575)
I13S (p.Ile13Ser) in G6PC1 (P35575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I13S (p.Ile13Ser) variant details
- p.Ile13Ser
- gnomAD 17-42900909-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 28.70
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available