R48Q (p.Arg48Gln) variant of FOXP3 (Forkhead box protein P3)
R48Q (p.Arg48Gln) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- ESP rs373567091
- ExAC rs373567091
- gnomAD rs373567091
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.33
- CADD 22.60
- PolyPhen-2 0.57
- SIFT 0.23
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 4e-05)