L3F (p.Leu3Phe) variant of CFH (Complement factor H)
L3F (p.Leu3Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- rs139254423
- gnomAD 1-196652124-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0846
- REVEL 0.04
- CADD 4.89
- PolyPhen-2 0.18
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available