A34V (p.Ala34Val) variant of PDX1 (P52945)
A34V (p.Ala34Val) 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; Maturity-onset diabetes of the young type 4; Type 2 diabe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs750219172
- ClinGen CA6927582
- ClinVar RCV001817577
- ClinVar RCV003728021
- Uncertain significance
- Pancreatic agenesis 1; Maturity-onset diabetes of the young type 4; Type 2 diabe
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.55
- CADD 27.70
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (Pancreatic agenesis 1; Maturity-onset diabetes of the young type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)