E178K (p.Glu178Lys) variant of PDX1 (P52945)
E178K (p.Glu178Lys) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pancreatic agenesis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
E178K (p.Glu178Lys) variant details
- p.Glu178Lys
- rs80356662
- ClinGen CA341649
- ClinVar RCV000020216
- TOPMed rs80356662
- Pathogenic
- Pancreatic agenesis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Pancreatic agenesis 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. (PMID 12970316)