L10F (p.Leu10Phe) variant of CFH (Complement factor H)
L10F (p.Leu10Phe) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs1375316866
- gnomAD 1-196652145-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.04
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available