S108* (p.Ser108Ter) variant of C5 (Complement C5)
S108* (p.Ser108Ter) in C5 (Complement C5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S108* (p.Ser108Ter) variant details
- p.Ser108Ter
- Ensembl rs2047595196
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 36.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available