H121Y (p.His121Tyr) variant of FOXP3 (Forkhead box protein P3)
H121Y (p.His121Tyr) 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 0.45 / 1. The record also includes population frequency data and published literature.
H121Y (p.His121Tyr) variant details
- p.His121Tyr
- rs782640594
- ClinGen CA10411817
- ClinVar RCV000908445
- 1000Genomes rs782640594
- Conflicting interpretations
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.36
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0069)
- Cited in: IPEX Syndrome. (PMID 20301297)