R5M (p.Arg5Met) variant of FOXP3 (Forkhead box protein P3)
R5M (p.Arg5Met) 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 0.48 / 1. The record also includes population frequency data and published literature.
R5M (p.Arg5Met) variant details
- p.Arg5Met
- rs2147949758
- ClinGen CA412954377
- ClinVar RCV001999584
- Ensembl rs2147949758
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.54
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: IPEX Syndrome. (PMID 20301297)