L24V (p.Leu24Val) variant of CFH (Complement factor H)
L24V (p.Leu24Val) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- rs928296341
- gnomAD 1-196672989-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.10
- CADD 16.60
- PolyPhen-2 0.63
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available