Y23* (p.Tyr23Ter) variant of C5 (Complement C5)
Y23* (p.Tyr23Ter) 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 0.31 / 1. The record also includes population frequency data and structural context.
Y23* (p.Tyr23Ter) variant details
- p.Tyr23Ter
- rs759960744
- ClinGen CA5218466
- ClinVar RCV001975121
- ExAC rs759960744
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available