D16G (p.Asp16Gly) variant of PDX1 (P52945)
D16G (p.Asp16Gly) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- gnomAD 13-27920185-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.57
- CADD 27.60
- PolyPhen-2 0.52
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available