L24H (p.Leu24His) variant of CFH (Complement factor H)
L24H (p.Leu24His) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L24H (p.Leu24His) variant details
- p.Leu24His
- rs1007759235
- gnomAD 1-196672990-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available