A384T (p.Ala384Thr) variant of FOXP3 (Forkhead box protein P3)
A384T (p.Ala384Thr) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
A384T (p.Ala384Thr) variant details
- p.Ala384Thr
- rs122467170
- ClinGen CA255859
- ClinVar RCV000012163
- UniProt VAR 011332
- Pathogenic/Likely pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Pathogenic (in IPEX)
- UniProt: Pathogenic (in IPEX)
- Structural context available
- Cited in: Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. (PMID 10706361)
- Cited in: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. (PMID 11137992)