F20S (p.Phe20Ser) variant of PDX1 (P52945)
F20S (p.Phe20Ser) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F20S (p.Phe20Ser) variant details
- p.Phe20Ser
- gnomAD 13-27920197-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.60
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available