C52Y (p.Cys52Tyr) variant of CFH (Complement factor H)
C52Y (p.Cys52Tyr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C52Y (p.Cys52Tyr) variant details
- p.Cys52Tyr
- rs1419451167
- gnomAD 1-196673074-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.94
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available