D39Y (p.Asp39Tyr) variant of CFH (Complement factor H)
D39Y (p.Asp39Tyr) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D39Y (p.Asp39Tyr) variant details
- p.Asp39Tyr
- gnomAD 1-196673034-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available