A9G (p.Ala9Gly) variant of PDX1 (P52945)
A9G (p.Ala9Gly) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- gnomAD 13-27920164-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.42
- CADD 23.90
- PolyPhen-2 0.45
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available