T132I (p.Thr132Ile) variant of FOXP3 (Forkhead box protein P3)
T132I (p.Thr132Ile) 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 0.48 / 1. The record also includes population frequency data.
T132I (p.Thr132Ile) variant details
- p.Thr132Ile
- gnomAD rs1557116550
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.36
- CADD 20.70
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)