G23A (p.Gly23Ala) variant of PDX1 (P52945)
G23A (p.Gly23Ala) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- gnomAD 13-27920206-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.17
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available