A18E (p.Ala18Glu) variant of CFH (Complement factor H)
A18E (p.Ala18Glu) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD 1-196652170-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.18
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available