E98K (p.Glu98Lys) variant of ETV4 (ETS translocation variant 4)
E98K (p.Glu98Lys) 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 0.49 / 1. The record also includes population frequency data.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- rs769333020
- NCI-TCGA Cosmic COSV6004
- cosmic curated COSV60044
- ExAC rs769333020
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.27
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)