A9T (p.Ala9Thr) variant of PDX1 (P52945)
A9T (p.Ala9Thr) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- gnomAD 13-27920163-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.32
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available