Q40* (p.Gln40Ter) variant of CFH (Complement factor H)
Q40* (p.Gln40Ter) in CFH (Complement factor H) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- gnomAD 1-196673037-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available