E164D (p.Glu164Asp) variant of FOXP3 (Forkhead box protein P3)
E164D (p.Glu164Asp) 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 0.62 / 1. The record also includes published literature.
E164D (p.Glu164Asp) variant details
- p.Glu164Asp
- rs2147948631
- ClinGen CA412952500
- ClinVar RCV001903106
- Ensembl rs2147948631
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.24
- MetaLR 0.88
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.18
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: IPEX Syndrome. (PMID 20301297)