P26L (p.Pro26Leu) variant of PDX1 (P52945)
P26L (p.Pro26Leu) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pancreatic hypoplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs954397231
- ClinGen CA247262898
- ClinVar RCV002463991
- TOPMed rs954397231
- Uncertain significance
- Pancreatic hypoplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.20
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Pancreatic hypoplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available