E45D (p.Glu45Asp) variant of ETV1 (ETS translocation variant 1)
E45D (p.Glu45Asp) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- Ensembl rs1782580999
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.53
- SIFT 0.53
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available