C85F (p.Cys85Phe) variant of CFH (Complement factor H)
C85F (p.Cys85Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C85F (p.Cys85Phe) variant details
- p.Cys85Phe
- gnomAD 1-196673866-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.97
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available