F371C (p.Phe371Cys) variant of FOXP3 (Forkhead box protein P3)
F371C (p.Phe371Cys) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
F371C (p.Phe371Cys) variant details
- p.Phe371Cys
- rs122467169
- ClinGen CA255857
- ClinVar RCV000012162
- UniProt VAR 011331
- Pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Pathogenic (in IPEX)
- UniProt: Pathogenic (in IPEX)
- Structural context available
- Cited in: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. (PMID 11137992)
- Cited in: Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells. (PMID 21458306)