A34A (p.Ala34Ala) variant of PDX1 (P52945)
A34A (p.Ala34Ala) in PDX1 (P52945) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A34A (p.Ala34Ala) variant details
- p.Ala34Ala
- gnomAD 13-27920240-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 10.80
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available