R178K (p.Arg178Lys) variant of FOXP3 (Forkhead box protein P3)
R178K (p.Arg178Lys) in FOXP3 (Forkhead box protein P3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
R178K (p.Arg178Lys) variant details
- p.Arg178Lys
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66052
- TOPMed rs2066077539
- gnomAD rs2066077539
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.26
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 9.3e-05)