D34E (p.Asp34Glu) variant of FOXP3 (Forkhead box protein P3)
D34E (p.Asp34Glu) 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; Diabetes mellit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and published literature.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- rs2066088699
- ClinGen CA412954171
- ClinVar RCV001281015
- ClinVar RCV003224546
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome; Diabetes mellit
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.19
- CADD 1.69
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Cited in: IPEX Syndrome. (PMID 20301297)