E178G (p.Glu178Gly) variant of PDX1 (P52945)
E178G (p.Glu178Gly) 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; Maturity-onset diabetes of the young type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E178G (p.Glu178Gly) variant details
- p.Glu178Gly
- rs387906777
- ClinGen CA128952
- ClinVar RCV000023034
- ClinVar RCV000239365
- Pathogenic
- Pancreatic agenesis 1; Maturity-onset diabetes of the young type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Pancreatic agenesis 1; Maturity-onset diabetes of the young type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. (PMID 20009086)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)