P20L (p.Pro20Leu) variant of RNF215 (RING finger protein 215)
P20L (p.Pro20Leu) in RNF215 (RING finger protein 215) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs1475021374
- gnomAD 22-30374737-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 6.78
- Population evidence available
- Structural context available
- Literature evidence available