C16L (p.Cys16Leu) variant of CFH (Complement factor H)
C16L (p.Cys16Leu) in CFH (Complement factor H) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
C16L (p.Cys16Leu) variant details
- p.Cys16Leu
- rs1354648948
- gnomAD 1-196652163-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available