E23K (p.Glu23Lys) variant of CFH (Complement factor H)
E23K (p.Glu23Lys) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs754932801
- gnomAD 1-196672986-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.70
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available