L74F (p.Leu74Phe) variant of CFH (Complement factor H)
L74F (p.Leu74Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L74F (p.Leu74Phe) variant details
- p.Leu74Phe
- rs368835171
- gnomAD 1-196673139-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.16
- CADD 15.60
- PolyPhen-2 0.81
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available