R22* (p.Arg22Ter) variant of PDX1 (P52945)
R22* (p.Arg22Ter) in PDX1 (P52945) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R22* (p.Arg22Ter) variant details
- p.Arg22Ter
- gnomAD 13-27920202-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available