K8R (p.Lys8Arg) variant of FOXP3 (Forkhead box protein P3)
K8R (p.Lys8Arg) in FOXP3 (Forkhead box protein P3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- TOPMed rs2066089397
- gnomAD rs2066089397
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.37
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00028)