Q21* (p.Gln21Ter) variant of PDX1 (P52945)
Q21* (p.Gln21Ter) in PDX1 (P52945) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- gnomAD 13-27920199-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available