T11A (p.Thr11Ala) variant of PDX1 (P52945)
T11A (p.Thr11Ala) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- gnomAD 13-27920169-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.14
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available