E19K (p.Glu19Lys) variant of CFH (Complement factor H)
E19K (p.Glu19Lys) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs748624911
- gnomAD 1-196652172-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.13
- CADD 8.62
- PolyPhen-2 0.11
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available