C178Y (p.Cys178Tyr) variant of F12 (Coagulation factor XII)
C178Y (p.Cys178Tyr) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
C178Y (p.Cys178Tyr) variant details
- p.Cys178Tyr
- TOPMed rs1200712658
- gnomAD rs1200712658
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available