L131R (p.Leu131Arg) variant of FOXP3 (Forkhead box protein P3)
L131R (p.Leu131Arg) in FOXP3 (Forkhead box protein P3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
L131R (p.Leu131Arg) variant details
- p.Leu131Arg
- ExAC rs782604073
- gnomAD rs782604073
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.66
- CADD 23.10
- PolyPhen-2 0.90
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)