R51Q (p.Arg51Gln) variant of FOXP3 (Forkhead box protein P3)
R51Q (p.Arg51Gln) 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 specified; FOXP3-related disorder; Insulin-dependent diabetes mellitus secre. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs1170772176
- ClinGen CA412953978
- ClinVar RCV001806840
- ClinVar RCV002503296
- Uncertain significance
- not specified; FOXP3-related disorder; Insulin-dependent diabetes mellitus secre
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.31
- CADD 16.10
- PolyPhen-2 0.11
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; FOXP3-related disorder; Insulin-dependent diabete)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Cited in: IPEX Syndrome. (PMID 20301297)