E5G (p.Glu5Gly) variant of PDX1 (P52945)
E5G (p.Glu5Gly) in PDX1 (P52945) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- gnomAD 13-27920148-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 32.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available