C21S (p.Cys21Ser) variant of CFH (Complement factor H)
C21S (p.Cys21Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C21S (p.Cys21Ser) variant details
- p.Cys21Ser
- gnomAD 1-196672981-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.68
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available