C18* (p.Cys18Ter) variant of PDX1 (P52945)
C18* (p.Cys18Ter) in PDX1 (P52945) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
C18* (p.Cys18Ter) variant details
- p.Cys18Ter
- TOPMed rs1278981936
- gnomAD rs1278981936
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available