E47* (p.Glu47Ter) variant of RNF215 (RING finger protein 215)
E47* (p.Glu47Ter) in RNF215 (RING finger protein 215) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- gnomAD 22-30374764-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0856
- CADD 0.69
- Population evidence available
- Structural context available
- Literature evidence available