E37* (p.Glu37Ter) variant of C5 (Complement C5)
E37* (p.Glu37Ter) in C5 (Complement C5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
E37* (p.Glu37Ter) variant details
- p.Glu37Ter
- gnomAD rs2047627522
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available