P33S (p.Pro33Ser) variant of PDX1 (P52945)
P33S (p.Pro33Ser) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pancreatic agenesis 1; Maturity-onset diabetes of the young type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- rs192902098
- ClinGen CA6927580
- ClinVar RCV002573844
- ClinVar RCV003331374
- Uncertain significance
- not provided; Pancreatic agenesis 1; Maturity-onset diabetes of the young type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.76
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Pancreatic agenesis 1; Maturity-onset diabetes of)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)