L9H (p.Leu9His) variant of RNF207 (RING finger protein 207)
L9H (p.Leu9His) in RNF207 (RING finger protein 207) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L9H (p.Leu9His) variant details
- p.Leu9His
- gnomAD 1-6206560-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available