A19T (p.Ala19Thr) variant of PDX1 (P52945)
A19T (p.Ala19Thr) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD rs1291256558
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.51
- CADD 24.90
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available