R54L (p.Arg54Leu) variant of RNF215 (RING finger protein 215)
R54L (p.Arg54Leu) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- gnomAD 22-30374652-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 1.29
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available