K144E (p.Lys144Glu) variant of FOXP3 (Forkhead box protein P3)
K144E (p.Lys144Glu) 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 not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
K144E (p.Lys144Glu) variant details
- p.Lys144Glu
- rs1557116530
- ClinGen CA412952804
- ClinVar RCV000596436
- ClinVar RCV002491227
- Uncertain significance
- not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.57
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Insulin-dependent diabetes mellitus secretory diar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: IPEX Syndrome. (PMID 20301297)