Q43* (p.Gln43Ter) variant of F13A1 (Coagulation factor XIII A chain)
Q43* (p.Gln43Ter) in F13A1 (Coagulation factor XIII A chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Q43* (p.Gln43Ter) variant details
- p.Gln43Ter
- ExAC rs776816717
- TOPMed rs776816717
- gnomAD rs776816717
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available