C9R (p.Cys9Arg) variant of CFH (Complement factor H)
C9R (p.Cys9Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C9R (p.Cys9Arg) variant details
- p.Cys9Arg
- gnomAD 1-196652142-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.43
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available