P24R (p.Pro24Arg) variant of PDX1 (P52945)
P24R (p.Pro24Arg) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- TOPMed rs921718972
- gnomAD rs921718972
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.33
- CADD 19.20
- PolyPhen-2 0.29
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available