E19D (p.Glu19Asp) variant of CFH (Complement factor H)
E19D (p.Glu19Asp) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 1-196652174-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.14
- CADD 27.60
- PolyPhen-2 0.15
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available