C18F (p.Cys18Phe) variant of PDX1 (P52945)
C18F (p.Cys18Phe) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C18F (p.Cys18Phe) variant details
- p.Cys18Phe
- gnomAD 13-27920191-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.83
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available