I7F (p.Ile7Phe) variant of CFH (Complement factor H)
I7F (p.Ile7Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
I7F (p.Ile7Phe) variant details
- p.Ile7Phe
- gnomAD 1-196652136-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- REVEL 0.01
- CADD 18.50
- PolyPhen-2 0.81
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available