E5E (p.Glu5Glu) variant of PDX1 (P52945)
E5E (p.Glu5Glu) in PDX1 (P52945) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E5E (p.Glu5Glu) variant details
- p.Glu5Glu
- rs1957771274
- gnomAD 13-27920153-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 14.20
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available