I49V (p.Ile49Val) variant of G6PC1 (P35575)
I49V (p.Ile49Val) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I49V (p.Ile49Val) variant details
- p.Ile49Val
- TOPMed rs1399015558
- gnomAD rs1399015558
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.19
- CADD 16.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available