P33T (p.Pro33Thr) variant of PDX1 (P52945)
P33T (p.Pro33Thr) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Monogenic diabetes; not specified; Maturity-onset diabetes of the young. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- rs192902098
- ClinGen CA325750
- ClinVar RCV000030086
- ClinVar RCV000414508
- Conflicting interpretations
- Monogenic diabetes; not specified; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Monogenic diabetes; not specified; Maturity-onset diabetes of th)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)