P17S (p.Pro17Ser) variant of PDX1 (P52945)
P17S (p.Pro17Ser) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- TOPMed rs1280526637
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.15
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available