A34G (p.Ala34Gly) variant of PDX1 (P52945)
A34G (p.Ala34Gly) 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 0.63 / 1. The record also includes population frequency data and structural context.
A34G (p.Ala34Gly) variant details
- p.Ala34Gly
- ExAC rs750219172
- TOPMed rs750219172
- gnomAD rs750219172
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.53
- CADD 27.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available