E106Q (p.Glu106Gln) variant of ETV1 (ETS translocation variant 1)
E106Q (p.Glu106Gln) in ETV1 (ETS translocation variant 1) 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 0.47 / 1. The record also includes population frequency data and structural context.
E106Q (p.Glu106Gln) variant details
- p.Glu106Gln
- rs936225135
- NCI-TCGA Cosmic COSV5413
- NCI-TCGA Cosmic COSV5414
- TOPMed rs936225135
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.24
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available