G23D (p.Gly23Asp) variant of PDX1 (P52945)
G23D (p.Gly23Asp) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- gnomAD rs1435965192
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.11
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available