R48* (p.Arg48Ter) variant of FOXP3 (Forkhead box protein P3)
R48* (p.Arg48Ter) in FOXP3 (Forkhead box protein P3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
R48* (p.Arg48Ter) variant details
- p.Arg48Ter
- rs2066088072
- ClinGen CA412954016
- ClinVar RCV001224826
- Ensembl rs2066088072
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: IPEX Syndrome. (PMID 20301297)