D39H (p.Asp39His) variant of CFH (Complement factor H)
D39H (p.Asp39His) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D39H (p.Asp39His) variant details
- p.Asp39His
- gnomAD 1-196673034-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available