C16Y (p.Cys16Tyr) variant of CFH (Complement factor H)
C16Y (p.Cys16Tyr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
C16Y (p.Cys16Tyr) variant details
- p.Cys16Tyr
- gnomAD 1-196652164-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.44
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available