C16S (p.Cys16Ser) variant of CFH (Complement factor H)
C16S (p.Cys16Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- gnomAD 1-196652164-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.27
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available