T11S (p.Thr11Ser) variant of PDX1 (P52945)
T11S (p.Thr11Ser) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T11S (p.Thr11Ser) variant details
- p.Thr11Ser
- gnomAD 13-27920169-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.10
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available