F20I (p.Phe20Ile) variant of PDX1 (P52945)
F20I (p.Phe20Ile) 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.
F20I (p.Phe20Ile) variant details
- p.Phe20Ile
- gnomAD 13-27920196-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.50
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available