Q176* (p.Gln176Ter) variant of F12 (Coagulation factor XII)
Q176* (p.Gln176Ter) in F12 (Coagulation factor XII) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q176* (p.Gln176Ter) variant details
- p.Gln176Ter
- gnomAD rs1763256353
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 36.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available