P32T (p.Pro32Thr) variant of PDX1 (P52945)
P32T (p.Pro32Thr) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- gnomAD 13-27920232-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available