A384V (p.Ala384Val) variant of FOXP3 (Forkhead box protein P3)
A384V (p.Ala384Val) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes published literature and structural context.
A384V (p.Ala384Val) variant details
- p.Ala384Val
- rs2147944159
- ClinGen CA412947720
- ClinVar RCV002022751
- Ensembl rs2147944159
- Likely pathogenic
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 0.96
- SIFT 0.03
- EVE 0.66
- ClinVar: Likely pathogenic (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Likely pathogenic (in IPEX)
- UniProt: Likely pathogenic (in IPEX)
- Structural context available
- Cited in: IPEX Syndrome. (PMID 20301297)