E122K (p.Glu122Lys) variant of ETV4 (ETS translocation variant 4)
E122K (p.Glu122Lys) 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 0.39 / 1. The record also includes population frequency data.
E122K (p.Glu122Lys) variant details
- p.Glu122Lys
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10008
- Ensembl rs1971094437
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)