C110R (p.Cys110Arg) variant of F12 (Coagulation factor XII)
C110R (p.Cys110Arg) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C110R (p.Cys110Arg) variant details
- p.Cys110Arg
- ESP rs377676479
- ExAC rs377676479
- TOPMed rs377676479
- gnomAD rs377676479
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.94
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available