P32L (p.Pro32Leu) variant of PDX1 (P52945)
P32L (p.Pro32Leu) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- gnomAD rs1245281170
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.71
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available