T11K (p.Thr11Lys) variant of PDX1 (P52945)
T11K (p.Thr11Lys) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T11K (p.Thr11Lys) variant details
- p.Thr11Lys
- gnomAD 13-27920170-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.44
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available