A10P (p.Ala10Pro) variant of PDX1 (P52945)
A10P (p.Ala10Pro) 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 0.47 / 1. The record also includes population frequency data and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- TOPMed rs936474667
- gnomAD rs936474667
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.52
- CADD 23.30
- PolyPhen-2 0.64
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available