E23G (p.Glu23Gly) variant of CFH (Complement factor H)
E23G (p.Glu23Gly) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- rs773104581
- gnomAD 1-196672987-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.058
- REVEL 0.02
- CADD 4.92
- PolyPhen-2 0.03
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available