R28I (p.Arg28Ile) variant of CFH (Complement factor H)
R28I (p.Arg28Ile) in CFH (Complement factor H) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R28I (p.Arg28Ile) variant details
- p.Arg28Ile
- rs796052137
- gnomAD 1-196672999-GAAGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available