R54K (p.Arg54Lys) variant of RNF215 (RING finger protein 215)
R54K (p.Arg54Lys) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R54K (p.Arg54Lys) variant details
- p.Arg54Lys
- rs1342007678
- gnomAD 22-30374682-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 4.81
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available