E106G (p.Glu106Gly) variant of ETV1 (ETS translocation variant 1)
E106G (p.Glu106Gly) in ETV1 (ETS translocation variant 1) is a missense change. 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.
E106G (p.Glu106Gly) variant details
- p.Glu106Gly
- TOPMed rs1257214692
- gnomAD rs1257214692
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.41
- CADD 27.20
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available