E77K (p.Glu77Lys) variant of ETV1 (ETS translocation variant 1)
E77K (p.Glu77Lys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- cosmic curated COSV54150
- TOPMed rs1435454184
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.30
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available