A113T (p.Ala113Thr) variant of FOXP3 (Forkhead box protein P3)
A113T (p.Ala113Thr) 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 0.20 / 1. The record also includes population frequency data and published literature.
A113T (p.Ala113Thr) variant details
- p.Ala113Thr
- rs1398753395
- ClinGen CA412953178
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66051
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.27
- CADD 8.68
- PolyPhen-2 0.00
- 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 East Asian population (allele frequency 3.4e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)