R39W (p.Arg39Trp) variant of FOXP3 (Forkhead box protein P3)
R39W (p.Arg39Trp) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data.
R39W (p.Arg39Trp) variant details
- p.Arg39Trp
- gnomAD rs1557116718
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.20
- CADD 8.66
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00074)