E2K (p.Glu2Lys) variant of ETV4 (ETS translocation variant 4)
E2K (p.Glu2Lys) in ETV4 (ETS translocation variant 4) 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 0.38 / 1. The record also includes population frequency data.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- NCI-TCGA TCGA novel
- TOPMed rs1237593688
- gnomAD rs1237593688
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.12
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)