C80Y (p.Cys80Tyr) variant of CFH (Complement factor H)
C80Y (p.Cys80Tyr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C80Y (p.Cys80Tyr) variant details
- p.Cys80Tyr
- rs764571169
- gnomAD 1-196673158-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.92
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available