E47K (p.Glu47Lys) variant of RNF215 (RING finger protein 215)
E47K (p.Glu47Lys) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs985520482
- gnomAD 22-30374764-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.053
- CADD 0.93
- SIFT 0.13
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available