A48A (p.Ala48Ala) variant of CFH (Complement factor H)
A48A (p.Ala48Ala) in CFH (Complement factor H) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A48A (p.Ala48Ala) variant details
- p.Ala48Ala
- gnomAD 1-196673063-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.40
- Population evidence available
- Structural context available
- Literature evidence available