G53R (p.Gly53Arg) variant of FOXP3 (Forkhead box protein P3)
G53R (p.Gly53Arg) 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 not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs587780340
- ClinGen CA231122
- ClinVar RCV000117095
- ClinVar RCV001854567
- Uncertain significance
- not provided; Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.37
- CADD 20.50
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Insulin-dependent diabetes mellitus secretory diar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.032)
- Cited in: IPEX Syndrome. (PMID 20301297)