A19A (p.Ala19Ala) variant of PDX1 (P52945)
A19A (p.Ala19Ala) in PDX1 (P52945) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs1242500017
- gnomAD 13-27920195-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.095
- CADD 2.03
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available