C9W (p.Cys9Trp) variant of CFH (Complement factor H)
C9W (p.Cys9Trp) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C9W (p.Cys9Trp) variant details
- p.Cys9Trp
- rs755765120
- gnomAD 1-196652144-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.04
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available