G45S (p.Gly45Ser) variant of CFH (Complement factor H)
G45S (p.Gly45Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- gnomAD 1-196673052-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.49
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available