L77S (p.Leu77Ser) variant of CFH (Complement factor H)
L77S (p.Leu77Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
L77S (p.Leu77Ser) variant details
- p.Leu77Ser
- rs752361141
- gnomAD 1-196673149-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0479
- REVEL 0.01
- CADD 0.36
- PolyPhen-2 0.05
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available