E45K (p.Glu45Lys) variant of ETV1 (ETS translocation variant 1)
E45K (p.Glu45Lys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- gnomAD rs1782712186
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.34
- CADD 36.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available