Q12* (p.Gln12Ter) variant of PDX1 (P52945)
Q12* (p.Gln12Ter) in PDX1 (P52945) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- gnomAD 13-27920172-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available