P32S (p.Pro32Ser) variant of PDX1 (P52945)
P32S (p.Pro32Ser) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- gnomAD rs1340060753
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.65
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available