A19E (p.Ala19Glu) variant of PDX1 (P52945)
A19E (p.Ala19Glu) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD rs1354706283
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.60
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available