G47V (p.Gly47Val) variant of FOXP3 (Forkhead box protein P3)
G47V (p.Gly47Val) 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 0.39 / 1. The record also includes population frequency data and published literature.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- rs1432262933
- ClinGen CA412954021
- ClinVar RCV000699173
- TOPMed rs1432262933
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.44
- CADD 22.60
- PolyPhen-2 0.62
- SIFT 0.04
- 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 3.8e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)