T44S (p.Thr44Ser) variant of FOXP3 (Forkhead box protein P3)
T44S (p.Thr44Ser) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and published literature.
T44S (p.Thr44Ser) variant details
- p.Thr44Ser
- rs55711326
- ClinGen CA10411854
- ClinVar RCV003860285
- 1000Genomes rs55711326
- Conflicting interpretations
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.21
- CADD 0.08
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0065)
- Cited in: IPEX Syndrome. (PMID 20301297)