C18C (p.Cys18Cys) variant of PDX1 (P52945)
C18C (p.Cys18Cys) in PDX1 (P52945) is a synonymous 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.
C18C (p.Cys18Cys) variant details
- p.Cys18Cys
- gnomAD 13-27920192-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 11.90
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available