P24L (p.Pro24Leu) variant of PDX1 (P52945)
P24L (p.Pro24Leu) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- TOPMed rs921718972
- gnomAD rs921718972
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.29
- CADD 20.10
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available