G89E (p.Gly89Glu) variant of CFH (Complement factor H)
G89E (p.Gly89Glu) in CFH (Complement factor H) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G89E (p.Gly89Glu) variant details
- p.Gly89Glu
- gnomAD 1-196673876-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available