G3A (p.Gly3Ala) variant of PDX1 (P52945)
G3A (p.Gly3Ala) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pancreatic agenesis 1; Type 2 diabetes mellitus; Maturity-onset diabetes of the. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G3A (p.Gly3Ala) variant details
- p.Gly3Ala
- rs1380564366
- ClinGen CA387643220
- ClinVar RCV000712004
- ClinVar RCV002463733
- Uncertain significance
- Pancreatic agenesis 1; Type 2 diabetes mellitus; Maturity-onset diabetes of the
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.18
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (Pancreatic agenesis 1; Type 2 diabetes mellitus; Maturity-onset)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)