E164K (p.Glu164Lys) variant of FOXP3 (Forkhead box protein P3)
E164K (p.Glu164Lys) 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 0.62 / 1. The record also includes population frequency data.
E164K (p.Glu164Lys) variant details
- p.Glu164Lys
- cosmic curated COSV10531
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.56
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)