G55R (p.Gly55Arg) variant of CFH (Complement factor H)
G55R (p.Gly55Arg) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- rs1667337715
- gnomAD 1-196673082-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.76
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available