Y66* (p.Tyr66Ter) variant of C5 (Complement C5)
Y66* (p.Tyr66Ter) in C5 (Complement C5) is a protein-truncating change. 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.
Y66* (p.Tyr66Ter) variant details
- p.Tyr66Ter
- TOPMed rs1260360024
- gnomAD rs1260360024
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available