R53S (p.Arg53Ser) variant of CFH (Complement factor H)
R53S (p.Arg53Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R53S (p.Arg53Ser) variant details
- p.Arg53Ser
- gnomAD 1-196673076-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available