C18R (p.Cys18Arg) variant of PDX1 (P52945)
C18R (p.Cys18Arg) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Pancreatic agenesis 1; Maturity-onset diabetes of the. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C18R (p.Cys18Arg) variant details
- p.Cys18Arg
- rs137852785
- ClinGen CA325635
- ClinVar RCV000009412
- ClinVar RCV000439286
- Uncertain significance
- Type 2 diabetes mellitus; Pancreatic agenesis 1; Maturity-onset diabetes of the
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.90
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Pancreatic agenesis 1; Maturity-onset)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. (PMID 10545530)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)