R146Q (p.Arg146Gln) variant of FOXP3 (Forkhead box protein P3)
R146Q (p.Arg146Gln) 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 0.36 / 1. The record also includes population frequency data and published literature.
R146Q (p.Arg146Gln) variant details
- p.Arg146Gln
- rs1557116525
- ClinGen CA412952771
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66051
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.34
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.26
- ClinVar: Uncertain significance (Insulin-dependent diabetes mellitus secretory diarrhea syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00062)
- Cited in: IPEX Syndrome. (PMID 20301297)