H145Y (p.His145Tyr) variant of F12 (Coagulation factor XII)
H145Y (p.His145Tyr) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H145Y (p.His145Tyr) variant details
- p.His145Tyr
- TOPMed rs1453994046
- gnomAD rs1453994046
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- CADD 18.40
- PolyPhen-2 0.69
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available