A9S (p.Ala9Ser) variant of PDX1 (P52945)
A9S (p.Ala9Ser) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 13-27920163-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.37
- SIFT 0.19
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available