T44A (p.Thr44Ala) variant of FOXP3 (Forkhead box protein P3)
T44A (p.Thr44Ala) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, 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 0.15 / 1. The record also includes population frequency data and published literature.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- rs782474624
- ClinGen CA10411855
- ClinVar RCV001231807
- ExAC rs782474624
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.22
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.6e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)