Y42S (p.Tyr42Ser) variant of CFH (Complement factor H)
Y42S (p.Tyr42Ser) in CFH (Complement factor H) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Y42S (p.Tyr42Ser) variant details
- p.Tyr42Ser
- gnomAD 1-196673041-CAT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available