E4D (p.Glu4Asp) variant of PDX1 (P52945)
E4D (p.Glu4Asp) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- gnomAD 13-27920150-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.23
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available