R53L (p.Arg53Leu) variant of CFH (Complement factor H)
R53L (p.Arg53Leu) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- rs976333015
- gnomAD 1-196673077-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.40
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available