P126T (p.Pro126Thr) variant of FOXP3 (Forkhead box protein P3)
P126T (p.Pro126Thr) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
P126T (p.Pro126Thr) variant details
- p.Pro126Thr
- ExAC rs782202711
- TOPMed rs782202711
- gnomAD rs782202711
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.26
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00017)