E17* (p.Glu17Ter) variant of RBM20 (RNA-binding protein 20)
E17* (p.Glu17Ter) in RBM20 (RNA-binding protein 20) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- gnomAD 10-110644503-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available