A18S (p.Ala18Ser) variant of CFH (Complement factor H)
A18S (p.Ala18Ser) in CFH (Complement factor H) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs779300578
- gnomAD 1-196652169-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.11
- CADD 24.00
- PolyPhen-2 0.57
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available