P33H (p.Pro33His) variant of PDX1 (P52945)
P33H (p.Pro33His) 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; Maturity-onset diabetes of the young type 4; Pancreati. 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.
P33H (p.Pro33His) variant details
- p.Pro33His
- rs767363575
- ClinGen CA6927581
- ClinVar RCV001932971
- ClinVar RCV002503590
- Uncertain significance
- Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 4; Pancreati
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.80
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Maturity-onset diabetes of the young t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00025)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)