G23C (p.Gly23Cys) variant of PDX1 (P52945)
G23C (p.Gly23Cys) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G23C (p.Gly23Cys) variant details
- p.Gly23Cys
- gnomAD 13-27920205-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.22
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available