P33L (p.Pro33Leu) variant of PDX1 (P52945)
P33L (p.Pro33Leu) 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 0.77 / 1. The record also includes population frequency data and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- ExAC rs767363575
- TOPMed rs767363575
- gnomAD rs767363575
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.75
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available