C130* (p.Cys130Ter) variant of F12 (Coagulation factor XII)
C130* (p.Cys130Ter) 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.
C130* (p.Cys130Ter) variant details
- p.Cys130Ter
- Ensembl rs865792091
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 34.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available