L24F (p.Leu24Phe) variant of CFH (Complement factor H)
L24F (p.Leu24Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- rs928296341
- gnomAD 1-196672989-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.14
- CADD 19.00
- PolyPhen-2 0.93
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available