R53C (p.Arg53Cys) variant of CFH (Complement factor H)
R53C (p.Arg53Cys) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- rs757785149
- gnomAD 1-196673076-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.50
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available