R54* (p.Arg54Ter) variant of RNF215 (RING finger protein 215)
R54* (p.Arg54Ter) in RNF215 (RING finger protein 215) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R54* (p.Arg54Ter) variant details
- p.Arg54Ter
- rs757805687
- gnomAD 22-30374653-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0808
- CADD 0.02
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available