A9V (p.Ala9Val) variant of PDX1 (P52945)
A9V (p.Ala9Val) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- gnomAD 13-27920164-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.20
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available