S38C (p.Ser38Cys) variant of CFH (Complement factor H)
S38C (p.Ser38Cys) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- gnomAD 1-196673032-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.06
- CADD 6.17
- PolyPhen-2 0.58
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available