A9P (p.Ala9Pro) variant of PDX1 (P52945)
A9P (p.Ala9Pro) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD rs1957771358
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.21
- CADD 23.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available