I8L (p.Ile8Leu) variant of CFH (Complement factor H)
I8L (p.Ile8Leu) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I8L (p.Ile8Leu) variant details
- p.Ile8Leu
- rs1447569980
- gnomAD 1-196652139-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.085
- REVEL 0.05
- CADD 9.59
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available