C73S (p.Cys73Ser) variant of F12 (Coagulation factor XII)
C73S (p.Cys73Ser) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C73S (p.Cys73Ser) variant details
- p.Cys73Ser
- 1000Genomes rs543853416
- ExAC rs543853416
- TOPMed rs543853416
- gnomAD rs543853416
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.88
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available