A34E (p.Ala34Glu) variant of PDX1 (P52945)
A34E (p.Ala34Glu) in PDX1 (P52945) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- ExAC rs750219172
- TOPMed rs750219172
- gnomAD rs750219172
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.59
- CADD 27.30
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available