G21R (p.Gly21Arg) variant of FOXP3 (Forkhead box protein P3)
G21R (p.Gly21Arg) 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 0.57 / 1. The record also includes population frequency data and published literature.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs782138321
- ClinGen CA10411866
- ClinVar RCV003513191
- ExAC rs782138321
- Uncertain significance
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.47
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- 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)