L24P (p.Leu24Pro) variant of CFH (Complement factor H)
L24P (p.Leu24Pro) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- rs1007759235
- gnomAD 1-196672990-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.06
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available