Q12Q (p.Gln12Gln) variant of PDX1 (P52945)
Q12Q (p.Gln12Gln) in PDX1 (P52945) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- gnomAD 13-27920174-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 13.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available