Q81Q (p.Gln81Gln) variant of CFH (Complement factor H)
Q81Q (p.Gln81Gln) in CFH (Complement factor H) is a protein-truncating 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.
Q81Q (p.Gln81Gln) variant details
- p.Gln81Gln
- gnomAD 1-196673162-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 6.55
- Population evidence available
- Structural context available
- Literature evidence available