P33A (p.Pro33Ala) variant of PDX1 (P52945)
P33A (p.Pro33Ala) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 4; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P33A (p.Pro33Ala) variant details
- p.Pro33Ala
- rs192902098
- ClinGen CA6927579
- ClinVar RCV001663754
- ClinVar RCV002032659
- Conflicting interpretations
- Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 4; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.72
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Type 2 diabetes mellitus; Maturity-onset diabetes of the young t)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)