G45D (p.Gly45Asp) variant of CFH (Complement factor H)
G45D (p.Gly45Asp) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs758810701
- gnomAD 1-196673053-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.52
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available