G3V (p.Gly3Val) variant of PDX1 (P52945)
G3V (p.Gly3Val) in PDX1 (P52945) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- TOPMed rs1380564366
- gnomAD rs1380564366
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available