A19P (p.Ala19Pro) variant of PDX1 (P52945)
A19P (p.Ala19Pro) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD rs1291256558
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.61
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available