C18W (p.Cys18Trp) variant of PDX1 (P52945)
C18W (p.Cys18Trp) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
C18W (p.Cys18Trp) variant details
- p.Cys18Trp
- TOPMed rs1278981936
- gnomAD rs1278981936
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.75
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available