C35F (p.Cys35Phe) variant of PDX1 (P52945)
C35F (p.Cys35Phe) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C35F (p.Cys35Phe) variant details
- p.Cys35Phe
- gnomAD 13-27920242-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available