W71* (p.Trp71Ter) variant of CFH (Complement factor H)
W71* (p.Trp71Ter) in CFH (Complement factor H) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W71* (p.Trp71Ter) variant details
- p.Trp71Ter
- rs1210674261
- gnomAD 1-196673132-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available