A111T (p.Ala111Thr) variant of FOXP3 (Forkhead box protein P3)
A111T (p.Ala111Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A111T (p.Ala111Thr) variant details
- p.Ala111Thr
- rs1424687079
- ClinGen CA412953205
- ClinVar RCV002023375
- TOPMed rs1424687079
- Conflicting interpretations
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.16
- CADD 7.30
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Conflicting classifications of pathogenicity (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: IPEX Syndrome. (PMID 20301297)