E164D (p.Glu164Asp) variant of PDX1 (P52945)
E164D (p.Glu164Asp) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; risk factor in the context of Diabetes mellitus type 2, susceptibility to; Pancreatic agenesis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E164D (p.Glu164Asp) variant details
- p.Glu164Asp
- rs80356661
- ClinGen CA128950
- ClinVar RCV000020215
- ClinVar RCV001799505
- Pathogenic; risk factor
- Diabetes mellitus type 2, susceptibility to; Pancreatic agenesis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic; risk factor (Diabetes mellitus type 2, susceptibility to; Pancreatic agenesis)
- 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)