R55Q (p.Arg55Gln) variant of F12 (Coagulation factor XII)
R55Q (p.Arg55Gln) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- TOPMed rs1431673523
- gnomAD rs1431673523
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.31
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available