P32H (p.Pro32His) variant of PDX1 (P52945)
P32H (p.Pro32His) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P32H (p.Pro32His) variant details
- p.Pro32His
- gnomAD 13-27920233-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.77
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available