P26R (p.Pro26Arg) variant of PDX1 (P52945)
P26R (p.Pro26Arg) in PDX1 (P52945) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- TOPMed rs954397231
- gnomAD rs954397231
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.17
- CADD 18.30
- PolyPhen-2 0.03
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available