C18Y (p.Cys18Tyr) variant of PDX1 (P52945)
C18Y (p.Cys18Tyr) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- gnomAD 13-27920191-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.74
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available