R53H (p.Arg53His) variant of CFH (Complement factor H)
R53H (p.Arg53His) 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.
R53H (p.Arg53His) variant details
- p.Arg53His
- rs976333015
- gnomAD 1-196673077-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.39
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available