T108M (p.Thr108Met) variant of FOXP3 (Forkhead box protein P3)
T108M (p.Thr108Met) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
T108M (p.Thr108Met) variant details
- p.Thr108Met
- rs782572328
- ClinGen CA10411824
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66050
- Conflicting interpretations
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.54
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.0079)
- Cited in: IPEX Syndrome. (PMID 20301297)