C18M (p.Cys18Met) variant of PDX1 (P52945)
C18M (p.Cys18Met) in PDX1 (P52945) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C18M (p.Cys18Met) variant details
- p.Cys18Met
- gnomAD 13-27920188-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available