T136I (p.Thr136Ile) variant of FOXP3 (Forkhead box protein P3)
T136I (p.Thr136Ile) 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; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
T136I (p.Thr136Ile) variant details
- p.Thr136Ile
- rs1255528846
- ClinGen CA412952896
- ClinVar RCV003625628
- ClinVar RCV004371766
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.28
- CADD 9.08
- PolyPhen-2 0.07
- SIFT 0.11
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)