E68D (p.Glu68Asp) variant of ETV1 (ETS translocation variant 1)
E68D (p.Glu68Asp) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E68D (p.Glu68Asp) variant details
- p.Glu68Asp
- cosmic curated COSV10453
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available