A9E (p.Ala9Glu) variant of PDX1 (P52945)
A9E (p.Ala9Glu) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD 13-27920164-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.54
- CADD 25.40
- PolyPhen-2 0.54
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available