C135* (p.Cys135Ter) variant of F12 (Coagulation factor XII)
C135* (p.Cys135Ter) in F12 (Coagulation factor XII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
C135* (p.Cys135Ter) variant details
- p.Cys135Ter
- Ensembl rs1581658448
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 35.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available