A18A (p.Ala18Ala) variant of CFH (Complement factor H)
A18A (p.Ala18Ala) in CFH (Complement factor H) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 1-196652171-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available