E176* (p.Glu176Ter) variant of C5 (Complement C5)
E176* (p.Glu176Ter) in C5 (Complement C5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E176* (p.Glu176Ter) variant details
- p.Glu176Ter
- rs1459526637
- ClinGen CA374759019
- ClinVar RCV003848818
- gnomAD rs1459526637
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available