L3I (p.Leu3Ile) variant of CFH (Complement factor H)
L3I (p.Leu3Ile) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L3I (p.Leu3Ile) variant details
- p.Leu3Ile
- gnomAD 1-196652124-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.45
- CADD 15.40
- PolyPhen-2 0.74
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available