E55K (p.Glu55Lys) variant of ETV1 (ETS translocation variant 1)
E55K (p.Glu55Lys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- Ensembl rs2128514156
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.52
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available