L3V (p.Leu3Val) variant of CFH (Complement factor H)
L3V (p.Leu3Val) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- rs139254423
- gnomAD 1-196652124-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.63
- CADD 11.50
- PolyPhen-2 0.74
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available